{
  "id": 19432,
  "label": "vitamin D-dependent rickets, type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019642",
  "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."
  },
  "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": 11368,
      "label": "vitamin D-dependent rickets, type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19432,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080884",
          "GARD:0018169",
          "MEDGEN:90989",
          "MESH:C562794",
          "NCIT:C131075",
          "OMIM:277440",
          "SCTID:237894002",
          "UMLS:C0342646"
        ],
        "synonyms": [
          "VDR vitamin D-dependent rickets, type 2",
          "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia",
          "rickets, vitamin D-resistant, type IIA",
          "vitamin D dependent rickets 2a",
          "vitamin D receptor deficiency rickets",
          "vitamin D-dependent rickets, type 2 caused by mutation in VDR",
          "vitamin D-dependent rickets, type 2A",
          "vitamin d-dependent rickets type II with alopecia",
          "Pddr 2A",
          "Pseudovitamin D-deficiency, type 2A",
          "VDDR2A",
          "generalised resistance to 1,25-dihydroxyvitamin D",
          "generalized resistance to 1,25-dihydroxyvitamin D",
          "hypocalcemic vitamin D-resistant rickets",
          "rickets, hereditary vitamin D-resistant",
          "rickets-alopecia syndrome",
          "vitamin D-dependent rickets, type 2A, with or without alopecia",
          "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010186"
    },
    {
      "id": 12064,
      "label": "vitamin D-dependent rickets, type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19432,
        24807
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080885",
          "GARD:0018170",
          "MEDGEN:411667",
          "NANDO:1200779",
          "NCIT:C131076",
          "OMIM:600785",
          "SCTID:237895001",
          "UMLS:C2748783"
        ],
        "synonyms": [
          "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia",
          "vitamin D dependent rickets 2b",
          "vitamin D receptor signaling defect rickets",
          "vitamin D receptor signalling defect rickets",
          "vitamin D resistant rickets",
          "vitamin D-dependent rickets type II without alopecia",
          "VDDR2B",
          "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010931"
    }
  ],
  "roots": [
    {
      "id": 17642,
      "label": "hypocalcemic rickets"
    },
    {
      "id": 21332,
      "label": "vitamin D-dependent rickets"
    }
  ]
}