{
  "id": 11480,
  "label": "osteopathia striata with cranial sclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010310",
  "properties": {
    "xrefs": [
      "DOID:0060886",
      "GARD:0004148",
      "ICD9:733.99",
      "MEDGEN:96590",
      "MESH:C536053",
      "OMIM:300373",
      "Orphanet:2780",
      "SCTID:254129003",
      "UMLS:C0432268"
    ],
    "synonyms": [
      "Osteopathia striata with cranial sclerosis, X-linked dominant",
      "Robinow-Unger syndrome",
      "hyperostosis generalisata with striations",
      "osteopathia striata with cranial sclerosis",
      "OSCS",
      "osteopathia striata - cranial sclerosis",
      "osteopathia striata cranial sclerosis",
      "osteopathia striata-cranial sclerosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 17540,
      "label": "osteopetrosis"
    }
  ]
}