{
  "id": 16712,
  "label": "Cole-Carpenter syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016085",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8609,
      "label": "Cole-Carpenter syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16712,
        24803
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007204"
    },
    {
      "id": 15571,
      "label": "Cole-Carpenter syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16712,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016077",
          "MEDGEN:905199",
          "OMIM:616294",
          "UMLS:C4225382"
        ],
        "synonyms": [
          "Cole-Carpenter syndrome 2",
          "Cole-Carpenter syndrome caused by mutation in SEC24D",
          "Cole-Carpenter syndrome type 2",
          "SEC24D Cole-Carpenter syndrome",
          "CLCRP2",
          "COLE-CARPENTER syndrome 2"
        ],
        "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 SEC24D gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014573"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}