{
  "id": 2709,
  "label": "hereditary hypophosphatemic rickets",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000044",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 21333,
      "label": "hypophosphatemic rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7175
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025385",
          "MEDGEN:309957",
          "MESH:D063730",
          "NANDO:1200778",
          "NANDO:1200780",
          "NANDO:2200402",
          "NANDO:2200403",
          "NCIT:C131449",
          "UMLS:C1704375"
        ],
        "synonyms": [
          "Phosphopenic rickets",
          "hypophosphatemic rickets",
          "acquired vitamin D resistant rickets",
          "acquired vitamin D-resistant rickets",
          "Ricket, hypophosphatemic",
          "hypophosphatemia, vitamin D-resistant rickets",
          "hypophosphatemic Ricket",
          "hypophosphatemic vitamin D resistant rickets",
          "hypophosphatemic vitamin D-resistant rickets",
          "rickets, vitamin D resistant",
          "rickets, vitamin D-resistant",
          "vitamin D-resistant rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D."
      },
      "child_count": 1,
      "reference_id": "MONDO:0024300"
    }
  ],
  "children": [
    {
      "id": 9938,
      "label": "autosomal dominant hypophosphatemic rickets",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2709,
        2903,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050948",
          "GARD:0016781",
          "MEDGEN:83346",
          "MESH:C562791",
          "OMIM:193100",
          "Orphanet:89937",
          "SCTID:237889002",
          "UMLS:C0342642"
        ],
        "synonyms": [
          "ADHR",
          "autosomal dominant hereditary hypophosphatemic rickets",
          "autosomal dominant hypophosphatemia",
          "autosomal dominant hypophosphatemic rickets",
          "hereditary hypophosphatemic rickets, autosomal dominant",
          "hypophosphatemic rickets, autosomal dominant",
          "hypophosphatemia, autosomal dominant",
          "vitamin D-resistant rickets, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008660"
    },
    {
      "id": 10660,
      "label": "hereditary hypophosphatemic rickets with hypercalciuria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2709,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050947",
          "GARD:0016977",
          "MEDGEN:501133",
          "MESH:C562793",
          "NCIT:C131450",
          "OMIM:241530",
          "Orphanet:157215",
          "SCTID:237891005",
          "UMLS:C1853271"
        ],
        "synonyms": [
          "HHRH",
          "hypercalciuric hypophosphatemic rickets",
          "hypophosphatemic hypercalciuric rickets",
          "hypophosphatemic rickets with hypercalciuria",
          "hypercalciuric rickets",
          "hypophosphatemic rickets with hypercalciuria, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009431"
    },
    {
      "id": 17643,
      "label": "autosomal recessive hypophosphatemic rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2709,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050949",
          "GARD:0017320",
          "MEDGEN:137975",
          "Orphanet:289176",
          "SCTID:90505000",
          "UMLS:C0342643"
        ],
        "synonyms": [
          "ARHR",
          "autosomal recessive hereditary hypophosphatemic rickets",
          "hereditary hypophosphatemic rickets, autosomal recessive",
          "hypophosphatemic rickets, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017324"
    },
    {
      "id": 20126,
      "label": "X-linked hypophosphatemic rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2709,
        2902
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020720"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 21333,
      "label": "hypophosphatemic rickets"
    }
  ]
}