{
  "id": 19477,
  "label": "neonatal osteosclerotic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019702",
  "properties": {
    "xrefs": [
      "GARD:0019199",
      "MEDGEN:721998",
      "Orphanet:93443",
      "SCTID:389236000",
      "UMLS:C1300205"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 8649,
      "label": "Caffey disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4308,
        4665,
        19477
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4257",
          "GARD:0001051",
          "ICD9:756.59",
          "MEDGEN:43781",
          "MESH:D006958",
          "NCIT:C118423",
          "OMIM:114000",
          "Orphanet:1310",
          "SCTID:24752008",
          "UMLS:C0020497"
        ],
        "synonyms": [
          "Caffey disease",
          "infantile cortical hyperostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007244"
    },
    {
      "id": 10228,
      "label": "chondrodysplasia Blomstrand type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19477
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060387",
          "GARD:0000914",
          "MEDGEN:395189",
          "MESH:C537914",
          "NCIT:C131420",
          "OMIM:215045",
          "Orphanet:50945",
          "UMLS:C1859148"
        ],
        "synonyms": [
          "BLC",
          "BOCD",
          "Blomstrand chondrodysplasia",
          "Blomstrand lethal chondrodysplasia",
          "Blomstrand osteochondrodysplasia",
          "Blomstrand type chondrodysplasia",
          "chondrodysplasia, Blomstrand type",
          "Blomstrand lethal osteochondrodysplasia",
          "Blomstrand's lethal chondrodysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008970"
    },
    {
      "id": 11028,
      "label": "lethal osteosclerotic bone dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19477
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000282",
          "MEDGEN:342416",
          "MESH:C535282",
          "MESH:C564916",
          "OMIM:259660",
          "OMIM:259775",
          "Orphanet:1832",
          "UMLS:C1850106",
          "icd11.foundation:1306493470"
        ],
        "synonyms": [
          "RAINE syndrome",
          "Raine syndrome",
          "lethal osteosclerotic bone dysplasia",
          "osteomalacia, sclerosing, with cerebral calcification",
          "osteosclerotic bone dysplasia, lethal",
          "RNS",
          "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009821"
    },
    {
      "id": 12338,
      "label": "desmosterolosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19477,
        23513
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070654",
          "GARD:0010283",
          "ICD9:272.8",
          "MEDGEN:400801",
          "MESH:C566555",
          "OMIM:602398",
          "Orphanet:35107",
          "SCTID:709490002",
          "UMLS:C1865596",
          "icd11.foundation:2108931494"
        ],
        "synonyms": [
          "desmosterolosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011217"
    },
    {
      "id": 16891,
      "label": "dysplastic cortical hyperostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19477
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025072",
          "MEDGEN:1683894",
          "Orphanet:646139",
          "UMLS:C5190839",
          "icd11.foundation:607086753"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016357"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}