{
  "url": "https://dantelabs.com/traits/rickets",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "rickets",
    "id": "HP:0002748",
    "name": "Weak and soft bones",
    "label": "Rickets",
    "definition": "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of 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": [
      {
        "slug": "hypophosphatemic-rickets",
        "name": "Hypophosphatemic rickets",
        "genes": 25,
        "url": "https://dantelabs.com/traits/hypophosphatemic-rickets"
      },
      {
        "slug": "rickets-of-the-lower-limbs",
        "name": "Rickets of the lower limbs",
        "genes": 3,
        "url": "https://dantelabs.com/traits/rickets-of-the-lower-limbs"
      }
    ],
    "genes": [
      {
        "slug": "cyp27b1",
        "symbol": "CYP27B1",
        "hgnc": "HGNC:2606",
        "name": "cytochrome P450 family 27 subfamily B member 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp27b1"
      },
      {
        "slug": "cyp2r1",
        "symbol": "CYP2R1",
        "hgnc": "HGNC:20580",
        "name": "cytochrome P450 family 2 subfamily R member 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp2r1"
      },
      {
        "slug": "farsb",
        "symbol": "FARSB",
        "hgnc": "HGNC:17800",
        "name": "phenylalanyl-tRNA synthetase subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/farsb"
      },
      {
        "slug": "hnf4a",
        "symbol": "HNF4A",
        "hgnc": "HGNC:5024",
        "name": "hepatocyte nuclear factor 4 alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnf4a"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "hgnc": "HGNC:13806",
        "name": "neurogenin 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neurog3"
      },
      {
        "slug": "phex",
        "symbol": "PHEX",
        "hgnc": "HGNC:8918",
        "name": "phosphate regulating endopeptidase X-linked",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/phex"
      },
      {
        "slug": "slc34a1",
        "symbol": "SLC34A1",
        "hgnc": "HGNC:11019",
        "name": "solute carrier family 34 member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a1"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "hgnc": "HGNC:12679",
        "name": "vitamin D receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vdr"
      },
      {
        "slug": "ctns",
        "symbol": "CTNS",
        "hgnc": "HGNC:2518",
        "name": "cystinosin, lysosomal cystine transporter",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ctns"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "atp8b1",
        "symbol": "ATP8B1",
        "hgnc": "HGNC:3706",
        "name": "ATPase phospholipid transporting 8B1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp8b1"
      },
      {
        "slug": "fgf23",
        "symbol": "FGF23",
        "hgnc": "HGNC:3680",
        "name": "fibroblast growth factor 23",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgf23"
      },
      {
        "slug": "hsd3b7",
        "symbol": "HSD3B7",
        "hgnc": "HGNC:18324",
        "name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd3b7"
      },
      {
        "slug": "rrm2b",
        "symbol": "RRM2B",
        "hgnc": "HGNC:17296",
        "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rrm2b"
      },
      {
        "slug": "slc2a2",
        "symbol": "SLC2A2",
        "hgnc": "HGNC:11006",
        "name": "solute carrier family 2 member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc2a2"
      },
      {
        "slug": "akr1d1",
        "symbol": "AKR1D1",
        "hgnc": "HGNC:388",
        "name": "aldo-keto reductase family 1 member D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akr1d1"
      },
      {
        "slug": "atp6v0a4",
        "symbol": "ATP6V0A4",
        "hgnc": "HGNC:866",
        "name": "ATPase H+ transporting V0 subunit a4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v0a4"
      },
      {
        "slug": "baat",
        "symbol": "BAAT",
        "hgnc": "HGNC:932",
        "name": "bile acid-CoA:amino acid N-acyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baat"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "hgnc": "HGNC:2037",
        "name": "claudin 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cldn16"
      },
      {
        "slug": "alpl",
        "symbol": "ALPL",
        "hgnc": "HGNC:438",
        "name": "alkaline phosphatase, biomineralization associated",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alpl"
      },
      {
        "slug": "clcn5",
        "symbol": "CLCN5",
        "hgnc": "HGNC:2023",
        "name": "Cl-/H+ antiporter 5",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clcn5"
      },
      {
        "slug": "dmp1",
        "symbol": "DMP1",
        "hgnc": "HGNC:2932",
        "name": "dentin matrix acidic phosphoprotein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmp1"
      },
      {
        "slug": "ehhadh",
        "symbol": "EHHADH",
        "hgnc": "HGNC:3247",
        "name": "enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ehhadh"
      },
      {
        "slug": "hla-dqa1",
        "symbol": "HLA-DQA1",
        "hgnc": "HGNC:4942",
        "name": "major histocompatibility complex, class II, DQ alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqa1"
      },
      {
        "slug": "hla-dqb1",
        "symbol": "HLA-DQB1",
        "hgnc": "HGNC:4944",
        "name": "major histocompatibility complex, class II, DQ beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dqb1"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "slc34a3",
        "symbol": "SLC34A3",
        "hgnc": "HGNC:20305",
        "name": "solute carrier family 34 member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a3"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "hgnc": "HGNC:11027",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a1"
      },
      {
        "slug": "tjp2",
        "symbol": "TJP2",
        "hgnc": "HGNC:11828",
        "name": "tight junction protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tjp2"
      }
    ]
  }
}