{
  "id": 11023,
  "label": "autosomal recessive osteopetrosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009815",
  "properties": {
    "xrefs": [
      "DOID:0110942",
      "GARD:0002579",
      "MEDGEN:376708",
      "MESH:C564915",
      "NCIT:C167215",
      "OMIM:259700",
      "UMLS:C1850127"
    ],
    "synonyms": [
      "OPTB1",
      "TCIRG1 autosomal recessive malignant osteopetrosis",
      "TCIRG1 autosomal recessive osteopetrosis",
      "autosomal recessive Albers-Schonberg disease",
      "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1",
      "autosomal recessive osteopetrosis 1",
      "autosomal recessive osteopetrosis caused by mutation in TCIRG1",
      "autosomal recessive osteopetrosis type 1",
      "infantile malignant osteopetrosis 1",
      "osteopetrosis, autosomal recessive type 1",
      "Albers-Schonberg disease, autosomal recessive",
      "marble bones autosomal recessive",
      "marble bones, autosomal recessive",
      "osteopetrosis autosomal recessive 1",
      "osteopetrosis infantile malignant 1",
      "osteopetrosis, autosomal recessive 1",
      "osteopetrosis, infantile malignant 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17540,
        19769
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015012",
          "MEDGEN:1385510",
          "NCIT:C129733",
          "OMIMPS:259700",
          "Orphanet:667",
          "SCTID:367489004",
          "UMLS:C4272578"
        ],
        "synonyms": [
          "OPTB",
          "autosomal recessive malignant osteopetrosis",
          "autosomal recessive osteopetrosis",
          "autosomal recessive osteopetrosis (disease)",
          "infantile malignant osteopetrosis",
          "osteopetrosis (disease), autosomal recessive",
          "malignant osteopetrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019026"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis"
    }
  ]
}