{
  "url": "https://dantelabs.com/traits/osteomalacia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "osteomalacia",
    "id": "HP:0002749",
    "name": "Softening of the bones",
    "label": "Osteomalacia",
    "definition": "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "skor2",
        "symbol": "SKOR2",
        "hgnc": "HGNC:32695",
        "name": "SKI family transcriptional corepressor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/skor2"
      },
      {
        "slug": "slc34a1",
        "symbol": "SLC34A1",
        "hgnc": "HGNC:11019",
        "name": "solute carrier family 34 member 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/slc34a1"
      },
      {
        "slug": "antxr2",
        "symbol": "ANTXR2",
        "hgnc": "HGNC:21732",
        "name": "ANTXR cell adhesion molecule 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/antxr2"
      },
      {
        "slug": "cyp27b1",
        "symbol": "CYP27B1",
        "hgnc": "HGNC:2606",
        "name": "cytochrome P450 family 27 subfamily B member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27b1"
      },
      {
        "slug": "cyp2r1",
        "symbol": "CYP2R1",
        "hgnc": "HGNC:20580",
        "name": "cytochrome P450 family 2 subfamily R member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp2r1"
      },
      {
        "slug": "dmp1",
        "symbol": "DMP1",
        "hgnc": "HGNC:2932",
        "name": "dentin matrix acidic phosphoprotein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmp1"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "hgnc": "HGNC:12679",
        "name": "vitamin D receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vdr"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "ehhadh",
        "symbol": "EHHADH",
        "hgnc": "HGNC:3247",
        "name": "enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ehhadh"
      },
      {
        "slug": "fgf23",
        "symbol": "FGF23",
        "hgnc": "HGNC:3680",
        "name": "fibroblast growth factor 23",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgf23"
      },
      {
        "slug": "gatm",
        "symbol": "GATM",
        "hgnc": "HGNC:4175",
        "name": "glycine amidinotransferase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gatm"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "hgnc": "HGNC:28625",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf6"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "slc34a3",
        "symbol": "SLC34A3",
        "hgnc": "HGNC:20305",
        "name": "solute carrier family 34 member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a3"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "hgnc": "HGNC:11027",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a1"
      },
      {
        "slug": "syk",
        "symbol": "SYK",
        "hgnc": "HGNC:11491",
        "name": "spleen associated tyrosine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syk"
      },
      {
        "slug": "alpl",
        "symbol": "ALPL",
        "hgnc": "HGNC:438",
        "name": "alkaline phosphatase, biomineralization associated",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alpl"
      },
      {
        "slug": "ap2s1",
        "symbol": "AP2S1",
        "hgnc": "HGNC:565",
        "name": "adaptor related protein complex 2 subunit sigma 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap2s1"
      },
      {
        "slug": "atp7b",
        "symbol": "ATP7B",
        "hgnc": "HGNC:870",
        "name": "ATPase copper transporting beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7b"
      },
      {
        "slug": "clcn5",
        "symbol": "CLCN5",
        "hgnc": "HGNC:2023",
        "name": "Cl-/H+ antiporter 5",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clcn5"
      },
      {
        "slug": "phex",
        "symbol": "PHEX",
        "hgnc": "HGNC:8918",
        "name": "phosphate regulating endopeptidase X-linked",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phex"
      },
      {
        "slug": "slc2a2",
        "symbol": "SLC2A2",
        "hgnc": "HGNC:11006",
        "name": "solute carrier family 2 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a2"
      }
    ]
  }
}