{
  "id": 13719,
  "label": "autosomal recessive osteopetrosis 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012679",
  "properties": {
    "xrefs": [
      "DOID:0110945",
      "GARD:0004156",
      "MEDGEN:409754",
      "MESH:C566931",
      "OMIM:611497",
      "Orphanet:210110",
      "UMLS:C1969093"
    ],
    "synonyms": [
      "OPTB6",
      "PLEKHM1 osteopetrosis (disease)",
      "autosomal recessive intermediate osteopetrosis",
      "autosomal recessive osteopetrosis type 6",
      "osteopetrosis (disease) caused by mutation in PLEKHM1",
      "osteopetrosis, autosomal recessive type 6",
      "intermediate osteopetrosis",
      "osteopetrosis autosomal recessive 6",
      "osteopetrosis autosomal recessive intermediate form",
      "osteopetrosis, autosomal recessive 6",
      "osteopetrosis, autosomal recessive, Intermediate form"
    ],
    "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 PLEKHM1 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"
    }
  ]
}