{
  "id": 17643,
  "label": "autosomal recessive hypophosphatemic rickets",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017324",
  "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."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "id": 10659,
      "label": "hypophosphatemic rickets, autosomal recessive, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17643,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018416",
          "MEDGEN:1632314",
          "MESH:C562792",
          "OMIM:241520",
          "UMLS:C4551495"
        ],
        "synonyms": [
          "DMP1 autosomal recessive hypophosphatemic rickets",
          "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1",
          "hypophosphatemic rickets, AR",
          "hypophosphatemic rickets, autosomal recessive, 1",
          "hypophosphatemic rickets, autosomal recessive, type 1",
          "ARHR1",
          "Arhr",
          "hypophosphatemia, autosomal recessive"
        ],
        "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 DMP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009430"
    },
    {
      "id": 14255,
      "label": "hypophosphatemic rickets, autosomal recessive, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17643,
        24807
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013219"
    }
  ],
  "roots": [
    {
      "id": 2709,
      "label": "hereditary hypophosphatemic rickets"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}