{
  "id": 12064,
  "label": "vitamin D-dependent rickets, type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010931",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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": 19432,
      "label": "vitamin D-dependent rickets, type 2"
    },
    {
      "id": 24807,
      "label": "abnormal mineralization disorder"
    }
  ]
}