{
  "url": "https://dantelabs.com/ko/genes/tnfrsf11b",
  "gene": {
    "slug": "tnfrsf11b",
    "symbol": "TNFRSF11B",
    "name": "TNF receptor superfamily member 11b",
    "hgnc": "HGNC:11909",
    "summary": null,
    "location": "8q24.12",
    "locusType": "gene with protein product",
    "aliases": [
      "OCIF",
      "TR1"
    ],
    "previousSymbols": [
      "OPG"
    ],
    "ensemblId": "ENSG00000164761",
    "entrezId": 4982,
    "omim": [
      "602643"
    ],
    "uniprot": [
      "O00300"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 118923557,
      "end": 118951885,
      "strand": "-",
      "ensemblTranscript": "ENST00000297350.9",
      "refseqTranscript": "NM_002546.4",
      "ensemblProtein": "ENSP00000297350.4",
      "refseqProtein": "NP_002537.3",
      "exons": [
        {
          "start": 118923557,
          "end": 118924762
        },
        {
          "start": 118926494,
          "end": 118926718
        },
        {
          "start": 118928738,
          "end": 118928929
        },
        {
          "start": 118932931,
          "end": 118933300
        },
        {
          "start": 118951792,
          "end": 118951885
        }
      ],
      "cds": {
        "start": 118924374,
        "end": 118951821
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 119935796,
      "end": 119964439,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 118437721,
      "end": 119437720,
      "genes": [
        {
          "symbol": "SAMD12",
          "ensemblId": "ENSG00000177570",
          "biotype": "protein_coding",
          "start": 118189455,
          "end": 118622112,
          "strand": "-",
          "slug": "samd12"
        },
        {
          "symbol": "COLEC10",
          "ensemblId": "ENSG00000184374",
          "biotype": "protein_coding",
          "start": 118995452,
          "end": 119113619,
          "strand": "+",
          "slug": "colec10"
        },
        {
          "symbol": "MAL2",
          "ensemblId": "ENSG00000147676",
          "biotype": "protein_coding",
          "start": 119165034,
          "end": 119249903,
          "strand": "+",
          "slug": "mal2"
        },
        {
          "symbol": "CCN3",
          "ensemblId": "ENSG00000136999",
          "biotype": "protein_coding",
          "start": 119416368,
          "end": 119424453,
          "strand": "+",
          "slug": "ccn3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-paget-disease-of-bone",
        "name": "가족성 파제트병(골)",
        "diseases": [
          {
            "mondoId": "MONDO:0009394",
            "name": "소아 파제트병",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "TNFRSF11B 변이로 발생하는 드문 소아기 발병 골 질환으로, 골 대사가 빠르게 일어나며 뼈 통증, 골절 및 변형이 나타납니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/familial-paget-disease-of-bone"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-clavicle-morphology",
        "name": "Abnormal collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-intervertebral-disk-morphology",
        "name": "Abnormal intervertebral disk morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "angioid-streaks",
        "name": "Angioid streaks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/angioid-streaks"
      },
      {
        "slug": "ankylosis",
        "name": "Ankylosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankylosis"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "barrel-shaped-chest",
        "name": "Barrel-shaped chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/barrel-shaped-chest"
      },
      {
        "slug": "melanocytic-nevus",
        "name": "Beauty mark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/melanocytic-nevus"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "calcification-of-cartilage",
        "name": "Calcification of cartilage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/calcification-of-cartilage"
      },
      {
        "slug": "chondrocalcinosis",
        "name": "Calcium deposits in joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chondrocalcinosis"
      },
      {
        "slug": "coarse-metaphyseal-trabecularization",
        "name": "Coarse metaphyseal trabecularization",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-metaphyseal-trabecularization"
      },
      {
        "slug": "decreased-body-mass-index",
        "name": "Decreased body mass index",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-mass-index"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-serum-acid-phosphatase",
        "name": "Elevated serum acid phosphatase",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-serum-acid-phosphatase"
      },
      {
        "slug": "hydroxyprolinuria",
        "name": "Elevated urinary hydroxyproline",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydroxyprolinuria"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "cranial-hyperostosis",
        "name": "Enlargement of skull bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cranial-hyperostosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hydroxyprolinemia",
        "name": "High blood hydroxyproline levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hydroxyprolinemia"
      },
      {
        "slug": "hyperphosphatemia",
        "name": "High blood phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperphosphatemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "increased-inflammatory-response",
        "name": "Increased inflammatory response",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-inflammatory-response"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "increased-urine-deoxypyridinoline-level",
        "name": "Increased urine deoxypyridinoline level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urine-deoxypyridinoline-level"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-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": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "lateral-femoral-bowing",
        "name": "Lateral femoral bowing",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lateral-femoral-bowing"
      },
      {
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "macular-scar",
        "name": "Macular scar",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macular-scar"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "relative-macrocephaly",
        "name": "Relatively large head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/relative-macrocephaly"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "synovitis",
        "name": "Synovitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/synovitis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}