{
  "id": 11025,
  "label": "autosomal recessive osteopetrosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009817",
  "properties": {
    "xrefs": [
      "DOID:0110939",
      "GARD:0004153",
      "MEDGEN:409627",
      "MESH:C566883",
      "OMIM:259720",
      "UMLS:C1968603"
    ],
    "synonyms": [
      "OPTB5",
      "OSTM1 osteopetrosis (disease)",
      "autosomal recessive osteopetrosis 5",
      "autosomal recessive osteopetrosis type 5",
      "osteopetrosis (disease) caused by mutation in OSTM1",
      "osteopetrosis, autosomal recessive type 5",
      "osteopetrosis autosomal recessive 5",
      "osteopetrosis infantile malignant 3",
      "osteopetrosis, autosomal recessive 5",
      "osteopetrosis, infantile malignant 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": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12000,
      "label": "infantile osteopetrosis with neuroaxonal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17540
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070343",
          "GARD:0010082",
          "MEDGEN:373924",
          "MESH:C536055",
          "OMIM:600329",
          "Orphanet:85179",
          "SCTID:724226009",
          "UMLS:C1838258",
          "icd11.foundation:1434293148"
        ],
        "synonyms": [
          "osteopetrosis and infantile neuroaxonal dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010866"
    },
    {
      "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": 12000,
      "label": "infantile osteopetrosis with neuroaxonal dysplasia"
    },
    {
      "id": 18939,
      "label": "autosomal recessive osteopetrosis"
    }
  ]
}