{
  "id": 20129,
  "label": "vitamin D-dependent rickets, type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020723",
  "properties": {
    "xrefs": [
      "DOID:0080886",
      "GARD:0018636",
      "OMIM:264700"
    ],
    "synonyms": [
      "vitamin D-dependent rickets, type 1A",
      "vitamin D-dependent rickets, type I",
      "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective",
      "1-Alpha-Hydroxylase deficiency",
      "25-hydroxycholecalciferol-1-Hydroxylase deficiency",
      "PDDR 1A",
      "VDDR1A",
      "pseudovitamin D-deficiency rickets, type 1A",
      "vitamin D dependency, type 1",
      "vitamin D hydroxylation-deficient rickets, type 1A"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11127,
      "label": "vitamin D-dependent rickets, type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17642,
        21332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017319",
          "MEDGEN:124344",
          "MESH:C562688",
          "NANDO:1200782",
          "NCIT:C131073",
          "Orphanet:289157",
          "SCTID:67049004",
          "UMLS:C0268689",
          "icd11.foundation:1270705227"
        ],
        "synonyms": [
          "1 Alpha-hydroxylase deficiency",
          "1-alpha-hydroxylase deficiency",
          "PDDRI",
          "VDDI",
          "VDDR-I",
          "VDDR1",
          "hypocalcemic vitamin D-dependent rickets",
          "pseudo vitamin-D deficient rickets",
          "pseudovitamin D-deficient rickets",
          "selective 1-alpha, 25-hydroxyvitamin D3 deficiency",
          "vitamin D 1 Alpha-Hydroxylase deficiency",
          "vitamin D dependent rickets type I",
          "vitamin D-dependency type I",
          "vitamin D-dependent rickets type 1",
          "vitamin D dependency, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009924"
    },
    {
      "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": 11127,
      "label": "vitamin D-dependent rickets, type 1"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}