{
  "id": 20059,
  "label": "autosomal dominant osteopetrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020645",
  "properties": {
    "xrefs": [
      "GARD:0025194",
      "MEDGEN:1378401",
      "NCIT:C129732",
      "OMIMPS:607634",
      "UMLS:C4272579"
    ],
    "synonyms": [
      "OPTA",
      "autosomal dominant osteopetrosis (disease)",
      "osteopetrosis (disease), autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal dominant form of osteopetrosis (disease)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 17540,
      "label": "osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        23099
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13533",
          "GARD:0004155",
          "HP:0011002",
          "ICD10CM:Q78.2",
          "ICD9:756.52",
          "MEDGEN:18223",
          "MESH:D010022",
          "MedDRA:10031280",
          "NANDO:1200998",
          "NANDO:2201013",
          "NCIT:C26840",
          "NORD:1538",
          "Orphanet:2781",
          "SCTID:1926006",
          "UMLS:C0029454",
          "icd11.foundation:1498426606"
        ],
        "synonyms": [
          "Albers-Schonberg disease",
          "marble bone disease",
          "marble bones",
          "osteopetrosis",
          "osteopetrosis (disease)",
          "Albers-Schoenberg disease",
          "osteopetroses",
          "osteopetrosis and related disorders",
          "osteosclerosis fragilis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs."
      },
      "child_count": 22,
      "reference_id": "MONDO:0017198"
    }
  ],
  "children": [
    {
      "id": 9467,
      "label": "autosomal dominant osteopetrosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110938",
          "GARD:0000383",
          "MEDGEN:465707",
          "OMIM:166600",
          "Orphanet:53",
          "SCTID:725050005",
          "UMLS:C3179239"
        ],
        "synonyms": [
          "Albers-Schönberg osteopetrosis",
          "OPTA2",
          "autosomal dominant osteopetrosis type 2",
          "osteopetrosis autosomal dominant type 2",
          "osteopetrosis, autosomal dominant type 2",
          "Albers-Schonberg disease, autosomal dominant",
          "marble bones, autosomal dominant",
          "osteopetrosis, autosomal dominant 2",
          "osteopetrosis, autosomal dominant, type 2",
          "osteosclerosis Fragilis generalisata"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008156"
    },
    {
      "id": 12955,
      "label": "autosomal dominant osteopetrosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110937",
          "GARD:0004151",
          "MEDGEN:335932",
          "MESH:C536056",
          "OMIM:607634",
          "Orphanet:2783",
          "UMLS:C1843330"
        ],
        "synonyms": [
          "LRP5 osteopetrosis (disease)",
          "OPTA1",
          "autosomal dominant osteopetrosis type 1",
          "osteopetrosis (disease) caused by mutation in LRP5",
          "osteopetrosis, autosomal dominant type 1",
          "osteopetrosis autosomal dominant type 1",
          "osteopetrosis, autosomal dominant 1",
          "osteopetrosis, autosomal dominant, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011877"
    },
    {
      "id": 20229,
      "label": "osteopetrosis, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025262",
          "MEDGEN:1648454",
          "OMIM:618107",
          "UMLS:C4748197"
        ],
        "synonyms": [
          "OPTA3",
          "OSTEOPETROSIS, autosomal dominant 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020848"
    },
    {
      "id": 26383,
      "label": "osteopetrosis, autosomal dominant 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621449"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980938"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17540,
      "label": "osteopetrosis"
    }
  ]
}