{
  "id": 17642,
  "label": "hypocalcemic rickets",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017323",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7175,
      "label": "rickets",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10609",
          "EFO:0005583",
          "GARD:0005700",
          "HP:0002748",
          "ICD9:268.0",
          "MEDGEN:48470",
          "MESH:D012279",
          "NCIT:C26878",
          "SCTID:41345002",
          "UMLS:C0035579"
        ],
        "synonyms": [
          "rachitis",
          "rickets",
          "rickets (disease)",
          "vitamin D hydroxylation-deficient rickets",
          "active rickets",
          "hypovitaminosis D",
          "nutritional rickets",
          "vitamin D deficiency disease",
          "vitamin-D deficiency rickets"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities."
      },
      "child_count": 4,
      "reference_id": "MONDO:0005520"
    },
    {
      "id": 17641,
      "label": "disorders of vitamin D metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875,
        7182
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021132",
          "MEDGEN:1842308",
          "Orphanet:289098",
          "UMLS:C5681017"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017322"
    }
  ],
  "children": [
    {
      "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": 19432,
      "label": "vitamin D-dependent rickets, type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17642,
        21332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016805",
          "MEDGEN:760752",
          "NANDO:1200783",
          "NCIT:C131077",
          "Orphanet:93160",
          "SCTID:72831007",
          "UMLS:C3536983",
          "icd11.foundation:2041886796"
        ],
        "synonyms": [
          "HVDRR",
          "VDDR II",
          "VDDR2",
          "VDRR II",
          "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor",
          "hereditary vitamin D-resistant rickets",
          "hypocalcemic vitamin D-resistant rickets",
          "vitamin D dependent rickets 2",
          "vitamin D receptor deficiency",
          "vitamin D-dependent rickets type II",
          "vitamin D-dependent rickets, type 2",
          "vitamin D-resistant rickets type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019642"
    }
  ],
  "roots": [
    {
      "id": 7175,
      "label": "rickets"
    },
    {
      "id": 17641,
      "label": "disorders of vitamin D metabolism"
    }
  ]
}