{
  "id": 20126,
  "label": "X-linked hypophosphatemic rickets",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020720",
  "properties": {
    "xrefs": [
      "GARD:0025223",
      "MEDGEN:761927",
      "MESH:D053098",
      "NCIT:C123265",
      "UMLS:C3540852",
      "icd11.foundation:1169135980"
    ],
    "synonyms": [
      "X-linked hypophosphatemic rickets",
      "X-linked hypophosphatemic rickets (recessive or dominant)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2709,
      "label": "hereditary hypophosphatemic rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006735",
          "MedDRA:10060873",
          "OMIMPS:193100",
          "Orphanet:437",
          "icd11.foundation:1010293846"
        ],
        "synonyms": [
          "hereditary hypophosphatemic rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000044"
    },
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    }
  ],
  "children": [
    {
      "id": 11524,
      "label": "hypophosphatemic rickets, X-linked recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20040,
        20126,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080353",
          "GARD:0015011",
          "MEDGEN:335115",
          "OMIM:300554",
          "UMLS:C1845168"
        ],
        "synonyms": [
          "CLCN5 X-linked hypophosphatemic rickets",
          "X-linked hypophosphatemic rickets caused by mutation in CLCN5",
          "hypophosphatemic rickets, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010358"
    },
    {
      "id": 11766,
      "label": "X-linked dominant hypophosphatemic rickets",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20039,
        20126,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050445",
          "GARD:0012943",
          "MEDGEN:196551",
          "NANDO:1200779",
          "NCIT:C85234",
          "OMIM:307800",
          "Orphanet:89936",
          "SCTID:82236004",
          "UMLS:C0733682"
        ],
        "synonyms": [
          "X-linked hypophosphatemia",
          "X-linked hypophosphatemic rickets",
          "X-linked dominant hypophosphatemic rickets",
          "X-linked hereditary hypophosphatemic rickets",
          "XLH",
          "hereditary hypophosphatemic rickets, X-linked",
          "hypophosphatemic rickets, X-linked",
          "hypophosphatemic rickets, X-linked dominant, X-linked dominant",
          "rickets, vitamin D-resistant",
          "vitamin D-resistant rickets, X-linked",
          "HPDR",
          "HYP",
          "XLHR",
          "hypophophatemia, X-linked",
          "hypophophatemic vitamin D-resistant rickets",
          "hypophosphatemia, X-linked",
          "hypophosphatemic rickets, X-linked dominant",
          "hypophosphatemic vitamin D-resistant rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010619"
    }
  ],
  "roots": [
    {
      "id": 2709,
      "label": "hereditary hypophosphatemic rickets"
    },
    {
      "id": 2902,
      "label": "X-linked disease"
    }
  ]
}