{
  "id": 12000,
  "label": "infantile osteopetrosis with neuroaxonal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010866",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 11025,
      "label": "autosomal recessive osteopetrosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12000,
        18939
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009817"
    }
  ],
  "roots": [
    {
      "id": 17540,
      "label": "osteopetrosis"
    }
  ]
}