{
  "url": "https://dantelabs.com/ro/genes/tnfrsf11a",
  "gene": {
    "slug": "tnfrsf11a",
    "symbol": "TNFRSF11A",
    "name": "TNF receptor superfamily member 11a",
    "hgnc": "HGNC:11908",
    "summary": null,
    "location": "18q21.33",
    "locusType": "gene with protein product",
    "aliases": [
      "RANK",
      "CD265",
      "FEO",
      "ODFR",
      "TRANCE-R"
    ],
    "previousSymbols": [
      "PDB2",
      "LOH18CR1"
    ],
    "ensemblId": "ENSG00000141655",
    "entrezId": 8792,
    "omim": [
      "603499"
    ],
    "uniprot": [
      "Q9Y6Q6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 62325310,
      "end": 62391288,
      "strand": "+",
      "ensemblTranscript": "ENST00000586569.3",
      "refseqTranscript": "NM_003839.4",
      "ensemblProtein": "ENSP00000465500.1",
      "refseqProtein": "NP_003830.1",
      "exons": [
        {
          "start": 62325310,
          "end": 62325427
        },
        {
          "start": 62348168,
          "end": 62348249
        },
        {
          "start": 62349812,
          "end": 62349937
        },
        {
          "start": 62354391,
          "end": 62354534
        },
        {
          "start": 62358248,
          "end": 62358341
        },
        {
          "start": 62359955,
          "end": 62360049
        },
        {
          "start": 62361680,
          "end": 62361793
        },
        {
          "start": 62366708,
          "end": 62366760
        },
        {
          "start": 62368701,
          "end": 62369484
        },
        {
          "start": 62384751,
          "end": 62391288
        }
      ],
      "cds": {
        "start": 62325353,
        "end": 62385034
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 59992520,
      "end": 60058516,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 61858299,
      "end": 62858298,
      "genes": [
        {
          "symbol": "RNF152",
          "ensemblId": "ENSG00000176641",
          "biotype": "protein_coding",
          "start": 61808067,
          "end": 61895097,
          "strand": "-",
          "slug": "rnf152"
        },
        {
          "symbol": "PIGN",
          "ensemblId": "ENSG00000197563",
          "biotype": "protein_coding",
          "start": 61905255,
          "end": 62187118,
          "strand": "-",
          "slug": "pign"
        },
        {
          "symbol": "RELCH",
          "ensemblId": "ENSG00000134444",
          "biotype": "protein_coding",
          "start": 62187255,
          "end": 62310249,
          "strand": "+",
          "slug": "relch"
        },
        {
          "symbol": "ZCCHC2",
          "ensemblId": "ENSG00000141664",
          "biotype": "protein_coding",
          "start": 62522994,
          "end": 62587709,
          "strand": "+",
          "slug": "zcchc2"
        },
        {
          "symbol": "PHLPP1",
          "ensemblId": "ENSG00000081913",
          "biotype": "protein_coding",
          "start": 62715424,
          "end": 62980433,
          "strand": "+",
          "slug": "phlpp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-paget-disease-of-bone",
        "name": "Boala Paget osoasă familială",
        "diseases": [
          {
            "mondoId": "MONDO:0011183",
            "name": "Boala Paget osoasă cu debut precoce (asociată cu TNFRSF11A)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "O formă a bolii Paget cu debut la începutul vârstei adulte, adesea cu pierdere auditivă și pierdere timpurie a dinților, cauzată de variante ale genei TNFRSF11A.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/familial-paget-disease-of-bone"
      },
      {
        "slug": "osteopetrosis",
        "name": "Osteopetroză",
        "diseases": [
          {
            "mondoId": "MONDO:0017198",
            "name": "Osteopetroză",
            "genes": 14,
            "inheritance": null,
            "description": "Osteopetroza, cunoscută și sub denumirea de boala oaselor de marmură, este un termen descriptiv care desemnează un grup de tulburări rare, ereditare, ale scheletului, caracterizate prin densitate osoasă crescută la radiografii.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/osteopetrosis"
      }
    ],
    "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": "abnormal-cranial-nerve-morphology",
        "name": "Abnormal cranial nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-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": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormal-trabecular-bone-morphology",
        "name": "Abnormal trabecular bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-trabecular-bone-morphology"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-skin",
        "name": "Absent/small skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin"
      },
      {
        "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": "bilateral-conductive-hearing-impairment",
        "name": "Bilateral conductive hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-conductive-hearing-impairment"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "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": "brain-stem-compression",
        "name": "Brain stem compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/brain-stem-compression"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "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": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "sclerosis-of-skull-base",
        "name": "Dense bone of skull base",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sclerosis-of-skull-base"
      },
      {
        "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": "hydroxyprolinuria",
        "name": "Elevated urinary hydroxyproline",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydroxyprolinuria"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "craniofacial-hyperostosis",
        "name": "Enlargement of craniofacial bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/craniofacial-hyperostosis"
      },
      {
        "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": "femur-fracture",
        "name": "Femur fracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/femur-fracture"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "fragile-teeth",
        "name": "Fragile teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/fragile-teeth"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "osteopetrosis",
        "name": "Harder, denser, fracture-prone bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopetrosis"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "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": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "increased-bone-mineral-density",
        "name": "Increased bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-bone-mineral-density"
      },
      {
        "slug": "increased-head-circumference",
        "name": "Increased head circumference",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-head-circumference"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "long-tract-sign",
        "name": "Long-tract sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/long-tract-sign"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypocalcemic-seizures",
        "name": "Low calcium seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypocalcemic-seizures"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-rib-fractures",
        "name": "Multiple rib fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-rib-fractures"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-nerve-compression",
        "name": "Optic nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/optic-nerve-compression"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "osteosclerosis-of-the-ulna",
        "name": "Osteosclerosis of the ulna",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteosclerosis-of-the-ulna"
      },
      {
        "slug": "paraparesis",
        "name": "Partial paralysis of legs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paraparesis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-long-bone-fractures",
        "name": "Recurrent long bone fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-long-bone-fractures"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "sandwich-appearance-of-vertebral-bodies",
        "name": "Sandwich appearance of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sandwich-appearance-of-vertebral-bodies"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "hypoplastic-vertebral-bodies",
        "name": "Underdeveloped back bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-vertebral-bodies"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "name": "APC membrane recruitment protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/amer1"
      },
      {
        "slug": "ca2",
        "symbol": "CA2",
        "name": "carbonic anhydrase 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ca2"
      },
      {
        "slug": "clcn7",
        "symbol": "CLCN7",
        "name": "Cl-/H+ antiporter 7",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/clcn7"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "name": "cathepsin K",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ctsk"
      },
      {
        "slug": "fermt3",
        "symbol": "FERMT3",
        "name": "FERM domain containing kindlin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/fermt3"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "name": "LDL receptor related protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/lrp5"
      },
      {
        "slug": "lrrk1",
        "symbol": "LRRK1",
        "name": "leucine rich repeat kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/lrrk1"
      },
      {
        "slug": "ostm1",
        "symbol": "OSTM1",
        "name": "osteoclastogenesis associated transmembrane protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ostm1"
      },
      {
        "slug": "plekhm1",
        "symbol": "PLEKHM1",
        "name": "pleckstrin homology and RUN domain containing M1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/plekhm1"
      },
      {
        "slug": "rasgrp2",
        "symbol": "RASGRP2",
        "name": "RAS guanyl releasing protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/rasgrp2"
      },
      {
        "slug": "snx10",
        "symbol": "SNX10",
        "name": "sorting nexin 10",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/snx10"
      },
      {
        "slug": "tcirg1",
        "symbol": "TCIRG1",
        "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tcirg1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}