{
  "url": "https://dantelabs.com/da/genes/cyp27b1",
  "gene": {
    "slug": "cyp27b1",
    "symbol": "CYP27B1",
    "name": "cytochrome P450 family 27 subfamily B member 1",
    "hgnc": "HGNC:2606",
    "summary": null,
    "location": "12q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CYP1",
      "P450c1"
    ],
    "previousSymbols": [
      "VDD1",
      "PDDR"
    ],
    "ensemblId": "ENSG00000111012",
    "entrezId": 1594,
    "omim": [
      "609506"
    ],
    "uniprot": [
      "O15528"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 57762334,
      "end": 57767078,
      "strand": "-",
      "ensemblTranscript": "ENST00000228606.9",
      "refseqTranscript": "NM_000785.4",
      "ensemblProtein": "ENSP00000228606.4",
      "refseqProtein": "NP_000776.1",
      "exons": [
        {
          "start": 57762334,
          "end": 57763255
        },
        {
          "start": 57763611,
          "end": 57763808
        },
        {
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        },
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        {
          "start": 57766007,
          "end": 57766197
        },
        {
          "start": 57766847,
          "end": 57767078
        }
      ],
      "cds": {
        "start": 57763142,
        "end": 57767041
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 58156117,
      "end": 58162769,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57264706,
      "end": 58264705,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000258830",
          "biotype": "protein_coding",
          "start": 57249609,
          "end": 57296484,
          "strand": "-"
        },
        {
          "symbol": "R3HDM2",
          "ensemblId": "ENSG00000179912",
          "biotype": "protein_coding",
          "start": 57253762,
          "end": 57431051,
          "strand": "-",
          "slug": "r3hdm2"
        },
        {
          "symbol": "INHBC",
          "ensemblId": "ENSG00000175189",
          "biotype": "protein_coding",
          "start": 57434700,
          "end": 57452067,
          "strand": "+",
          "slug": "inhbc"
        },
        {
          "symbol": "INHBE",
          "ensemblId": "ENSG00000139269",
          "biotype": "protein_coding",
          "start": 57452323,
          "end": 57459280,
          "strand": "+",
          "slug": "inhbe"
        },
        {
          "symbol": "GLI1",
          "ensemblId": "ENSG00000111087",
          "biotype": "protein_coding",
          "start": 57459783,
          "end": 57472268,
          "strand": "+",
          "slug": "gli1"
        },
        {
          "symbol": "ARHGAP9",
          "ensemblId": "ENSG00000123329",
          "biotype": "protein_coding",
          "start": 57472260,
          "end": 57488831,
          "strand": "-",
          "slug": "arhgap9"
        },
        {
          "symbol": "MARS1",
          "ensemblId": "ENSG00000166986",
          "biotype": "protein_coding",
          "start": 57475445,
          "end": 57517702,
          "strand": "+",
          "slug": "mars1"
        },
        {
          "symbol": "DDIT3",
          "ensemblId": "ENSG00000175197",
          "biotype": "protein_coding",
          "start": 57516584,
          "end": 57523630,
          "strand": "-",
          "slug": "ddit3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285133",
          "biotype": "protein_coding",
          "start": 57517712,
          "end": 57520480,
          "strand": "-"
        },
        {
          "symbol": "MBD6",
          "ensemblId": "ENSG00000166987",
          "biotype": "protein_coding",
          "start": 57520710,
          "end": 57530614,
          "strand": "+",
          "slug": "mbd6"
        },
        {
          "symbol": "DCTN2",
          "ensemblId": "ENSG00000175203",
          "biotype": "protein_coding",
          "start": 57529567,
          "end": 57547256,
          "strand": "-",
          "slug": "dctn2"
        },
        {
          "symbol": "KIF5A",
          "ensemblId": "ENSG00000155980",
          "biotype": "protein_coding",
          "start": 57546026,
          "end": 57586633,
          "strand": "+",
          "slug": "kif5a"
        },
        {
          "symbol": "PIP4K2C",
          "ensemblId": "ENSG00000166908",
          "biotype": "protein_coding",
          "start": 57591161,
          "end": 57603418,
          "strand": "+",
          "slug": "pip4k2c"
        },
        {
          "symbol": "DTX3",
          "ensemblId": "ENSG00000178498",
          "biotype": "protein_coding",
          "start": 57604484,
          "end": 57609804,
          "strand": "+",
          "slug": "dtx3"
        },
        {
          "symbol": "ARHGEF25",
          "ensemblId": "ENSG00000240771",
          "biotype": "protein_coding",
          "start": 57610111,
          "end": 57617245,
          "strand": "+",
          "slug": "arhgef25"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287908",
          "biotype": "protein_coding",
          "start": 57615280,
          "end": 57626125,
          "strand": "+"
        },
        {
          "symbol": "B4GALNT1",
          "ensemblId": "ENSG00000135454",
          "biotype": "protein_coding",
          "start": 57623409,
          "end": 57633242,
          "strand": "-",
          "slug": "b4galnt1"
        },
        {
          "symbol": "OS9",
          "ensemblId": "ENSG00000135506",
          "biotype": "protein_coding",
          "start": 57693841,
          "end": 57728342,
          "strand": "+",
          "slug": "os9"
        },
        {
          "symbol": "AGAP2",
          "ensemblId": "ENSG00000135439",
          "biotype": "protein_coding",
          "start": 57723761,
          "end": 57742209,
          "strand": "-",
          "slug": "agap2"
        },
        {
          "symbol": "TSPAN31",
          "ensemblId": "ENSG00000135452",
          "biotype": "protein_coding",
          "start": 57738013,
          "end": 57751383,
          "strand": "+",
          "slug": "tspan31"
        },
        {
          "symbol": "CDK4",
          "ensemblId": "ENSG00000135446",
          "biotype": "protein_coding",
          "start": 57746043,
          "end": 57756013,
          "strand": "-",
          "slug": "cdk4"
        },
        {
          "symbol": "MARCHF9",
          "ensemblId": "ENSG00000139266",
          "biotype": "protein_coding",
          "start": 57754940,
          "end": 57760411,
          "strand": "+",
          "slug": "marchf9"
        },
        {
          "symbol": "METTL1",
          "ensemblId": "ENSG00000037897",
          "biotype": "protein_coding",
          "start": 57768471,
          "end": 57772131,
          "strand": "-",
          "slug": "mettl1"
        },
        {
          "symbol": "EEF1AKMT3",
          "ensemblId": "ENSG00000123427",
          "biotype": "protein_coding",
          "start": 57771492,
          "end": 57782544,
          "strand": "+",
          "slug": "eef1akmt3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000257921",
          "biotype": "protein_coding",
          "start": 57772660,
          "end": 57797554,
          "strand": "+"
        },
        {
          "symbol": "TSFM",
          "ensemblId": "ENSG00000123297",
          "biotype": "protein_coding",
          "start": 57782731,
          "end": 57828655,
          "strand": "+",
          "slug": "tsfm"
        },
        {
          "symbol": "AVIL",
          "ensemblId": "ENSG00000135407",
          "biotype": "protein_coding",
          "start": 57797376,
          "end": 57818734,
          "strand": "-",
          "slug": "avil"
        },
        {
          "symbol": "CTDSP2",
          "ensemblId": "ENSG00000175215",
          "biotype": "protein_coding",
          "start": 57819925,
          "end": 57846976,
          "strand": "-",
          "slug": "ctdsp2"
        },
        {
          "symbol": "ATP23",
          "ensemblId": "ENSG00000166896",
          "biotype": "protein_coding",
          "start": 57906039,
          "end": 57959148,
          "strand": "+",
          "slug": "atp23"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-rickets",
        "name": "Arvelig rakitis (hypofosfatæmisk og D-vitaminafhængig)",
        "diseases": [
          {
            "mondoId": "MONDO:0024299",
            "name": "D-vitaminafhængig rakitis",
            "genes": 3,
            "inheritance": null,
            "description": "Arvelige defekter i aktiveringen af D-vitamin (CYP27B1, CYP2R1) eller i D-vitaminreceptoren (VDR), som forårsager rakitis i den tidlige barndom på trods af tilstrækkeligt indtag af D-vitamin.",
            "management": "De fleste typer reagerer godt på calcitriol, højdosis D-vitamin eller højdosis calcium, afhængigt af typen.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/hereditary-rickets"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-wall-muscle-weakness",
        "name": "Abdominal wall muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abdominal-wall-muscle-weakness"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "fibular-bowing",
        "name": "Bowed calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fibular-bowing"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "tibial-bowing",
        "name": "Bowed shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tibial-bowing"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "bulging-epiphyses",
        "name": "Bulging end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-epiphyses"
      },
      {
        "slug": "bulging-of-the-costochondral-junction",
        "name": "Bulging of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-of-the-costochondral-junction"
      },
      {
        "slug": "decreased-circulating-calcitriol-concentration",
        "name": "Decreased circulating calcitriol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-calcitriol-concentration"
      },
      {
        "slug": "deformed-rib-cage",
        "name": "Deformed rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/deformed-rib-cage"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "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-alkaline-phosphatase-of-bone-origin",
        "name": "Elevated alkaline phosphatase of bone origin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enlargement-of-the-ankles",
        "name": "Enlargement of the ankles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-ankles"
      },
      {
        "slug": "enlargement-of-the-costochondral-junction",
        "name": "Enlargement of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-costochondral-junction"
      },
      {
        "slug": "enlargement-of-the-wrists",
        "name": "Enlargement of the wrists",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-wrists"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hypochromic-anemia",
        "name": "Hypochromic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypochromic-anemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "tetany",
        "name": "Intermittent involuntary muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tetany"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "irregular-rachitic-like-metaphyses",
        "name": "Irregular, rachitic-like metaphyses",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-rachitic-like-metaphyses"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "wide-cranial-sutures",
        "name": "Large cranial suture",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-cranial-sutures"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypocalcemic-seizures",
        "name": "Low calcium seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypocalcemic-seizures"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "hypocalciuria",
        "name": "Low urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalciuria"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "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": "rachitic-rosary",
        "name": "Rachitic rosary",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rachitic-rosary"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "renal-phosphate-wasting",
        "name": "Renal phosphate wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-phosphate-wasting"
      },
      {
        "slug": "secondary-hyperparathyroidism",
        "name": "Secondary hyperparathyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/secondary-hyperparathyroidism"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "sparse-bone-trabeculae",
        "name": "Sparse bone trabeculae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-bone-trabeculae"
      },
      {
        "slug": "subperiosteal-bone-resorption",
        "name": "Subperiosteal bone resorption",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subperiosteal-bone-resorption"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "widely-patent-fontanelles-and-sutures",
        "name": "Widely patent fontanelles and sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures"
      }
    ],
    "related": [
      {
        "slug": "cyp2r1",
        "symbol": "CYP2R1",
        "name": "cytochrome P450 family 2 subfamily R member 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cyp2r1"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "name": "vitamin D receptor",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/vdr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}