{
  "id": 8609,
  "label": "Cole-Carpenter syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007204",
  "properties": {
    "xrefs": [
      "GARD:0024531",
      "MEDGEN:1374755",
      "OMIM:112240",
      "UMLS:C4317154"
    ],
    "synonyms": [
      "Cole-Carpenter syndrome 1",
      "Cole-Carpenter syndrome caused by mutation in P4HB",
      "Cole-Carpenter syndrome type 1",
      "P4HB Cole-Carpenter syndrome",
      "CLCRP1",
      "COLE-CARPENTER syndrome 1",
      "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16712,
      "label": "Cole-Carpenter syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060438",
          "GARD:0001425",
          "MEDGEN:350614",
          "MESH:C535963",
          "NCIT:C130985",
          "OMIMPS:112240",
          "Orphanet:2050",
          "UMLS:C1862178",
          "icd11.foundation:1458793358"
        ],
        "synonyms": [
          "bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome",
          "Cole Carpenter syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016085"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16712,
      "label": "Cole-Carpenter syndrome"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}