{
  "id": 11127,
  "label": "vitamin D-dependent rickets, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009924",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17642,
      "label": "hypocalcemic rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7175,
        17641
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021133",
          "MEDGEN:927864",
          "NCIT:C131421",
          "Orphanet:289103",
          "SCTID:722947004",
          "UMLS:C4302195"
        ],
        "synonyms": [
          "Calciopenic rickets",
          "calcium deficiency rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017323"
    },
    {
      "id": 21332,
      "label": "vitamin D-dependent rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7175
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080883",
          "GARD:0025384",
          "MEDGEN:526251",
          "NANDO:1200781",
          "NANDO:2100144",
          "NANDO:2200401",
          "SCTID:68295002",
          "UMLS:C0221468"
        ],
        "synonyms": [
          "VDDR"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0024299"
    }
  ],
  "children": [
    {
      "id": 11946,
      "label": "vitamin D hydroxylation-deficient rickets, type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4594,
        11127,
        23508,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080887",
          "GARD:0018415",
          "MEDGEN:374020",
          "MESH:C564005",
          "NCIT:C131074",
          "OMIM:600081",
          "UMLS:C1838657"
        ],
        "synonyms": [
          "CYP2R1 vitamin D-dependent rickets, type 1",
          "Vitam D hydroxylation-deficient rickets type 1b",
          "rickets due to defect in vitamin D 25-hydroxylation deficiency",
          "vitamin D 25-Hydroxylase deficiency",
          "vitamin D hydroxylation-deficient rickets type 1b",
          "vitamin D hydroxylation-deficient rickets, type 1B",
          "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1",
          "25-Hydroxyvitamin D3 deficiency, selective",
          "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency",
          "VDDR1B",
          "vitamin D-dependent rickets, type 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010810"
    },
    {
      "id": 20129,
      "label": "vitamin D-dependent rickets, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11127,
        24807
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020723"
    }
  ],
  "roots": [
    {
      "id": 17642,
      "label": "hypocalcemic rickets"
    },
    {
      "id": 21332,
      "label": "vitamin D-dependent rickets"
    }
  ]
}