{
  "id": 11946,
  "label": "vitamin D hydroxylation-deficient rickets, type 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010810",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    },
    {
      "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": 23508,
      "label": "steroid metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:541265",
          "SCTID:28710006",
          "UMLS:C0268283"
        ],
        "synonyms": [
          "disorder of steroid metabolic process",
          "disorder of steroid metabolism",
          "steroid metabolic process disease",
          "steroid metabolism disease"
        ],
        "definition": "A disease that has its basis in the disruption of steroid metabolic process."
      },
      "child_count": 4,
      "reference_id": "MONDO:0045012"
    },
    {
      "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": 4594,
      "label": "inherited lipid metabolism disorder"
    },
    {
      "id": 11127,
      "label": "vitamin D-dependent rickets, type 1"
    },
    {
      "id": 23508,
      "label": "steroid metabolism disease"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}