{
  "id": 14255,
  "label": "hypophosphatemic rickets, autosomal recessive, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013219",
  "properties": {
    "xrefs": [
      "GARD:0018417",
      "MEDGEN:442380",
      "MESH:C567647",
      "NORD:2000",
      "OMIM:613312",
      "UMLS:C2750078"
    ],
    "synonyms": [
      "Autosomal Recessive Hypophosphatemic Rickets Type 2",
      "ENPP1 autosomal recessive hypophosphatemic rickets",
      "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1",
      "hypophosphatemic rickets, autosomal recessive, 2",
      "hypophosphatemic rickets, autosomal recessive, type 2",
      "ARHR2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24807,
      "label": "abnormal mineralization disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026430"
        ],
        "synonyms": [
          "disorder of bone mineralization",
          "osteomalacia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia where osteoid becomes calcified."
      },
      "child_count": 18,
      "reference_id": "MONDO:0800096"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17643,
      "label": "autosomal recessive hypophosphatemic rickets"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}