{
  "id": 11026,
  "label": "autosomal recessive osteopetrosis 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009818",
  "properties": {
    "xrefs": [
      "DOID:0110941",
      "GARD:0004154",
      "ICD9:588.89",
      "MEDGEN:91042",
      "MESH:C536058",
      "NCIT:C118438",
      "OMIM:259730",
      "Orphanet:2785",
      "SCTID:254122007",
      "UMLS:C0345407"
    ],
    "synonyms": [
      "Autosomal Recessive osteopetrosis, type 3",
      "CA2 osteopetrosis (disease)",
      "Guibaud-Vainsel syndrome",
      "OPTB3",
      "autosomal recessive osteopetrosis type 3",
      "carbonic anhydrase 2 deficiency",
      "carbonic anhydrase II deficiency",
      "marble brain disease",
      "mixed RTA",
      "mixed renal tubular acidosis",
      "osteopetrosis (disease) caused by mutation in CA2",
      "osteopetrosis with renal tubular acidosis",
      "osteopetrosis, autosomal recessive 3, with renal tubular acidosis",
      "osteopetrosis, autosomal recessive type 3",
      "renal tubular acidosis type 3",
      "Guibaud Vainsel syndrome",
      "osteopetrosis autosomal recessive 3",
      "osteopetrosis, autosomal recessive 3"
    ],
    "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": "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."
  },
  "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"
    }
  ]
}