{
  "id": 7340,
  "label": "congenital diaphragmatic hernia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005711",
  "properties": {
    "xrefs": [
      "DOID:3827",
      "EFO:0007216",
      "GARD:0001481",
      "ICD10CM:Q79.0",
      "MEDGEN:68625",
      "MESH:D065630",
      "MedDRA:10010439",
      "NANDO:1200911",
      "NANDO:2100040",
      "NANDO:2200210",
      "NCIT:C98893",
      "OMIMPS:142340",
      "Orphanet:2140",
      "UMLS:C0235833",
      "icd11.foundation:1414428936"
    ],
    "synonyms": [
      "diaphragmatic hernia",
      "CDH",
      "congenital diaphragmatic hernia",
      "agenesis of hemidiaphragm",
      "congenital diaphragmatic defect",
      "unilateral agenesis of diaphragm"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7354,
      "label": "diaphragm disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6815,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10481",
          "EFO:0007233",
          "GARD:0024224",
          "ICD9:519.4",
          "MEDGEN:508886",
          "SCTID:48475001",
          "UMLS:C0152097"
        ],
        "synonyms": [
          "diaphragm disease",
          "diaphragm disease or disorder",
          "disease of diaphragm",
          "disease or disorder of diaphragm",
          "disorder of diaphragm",
          "diaphragmatic disease",
          "diaphragmatic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A disease involving the diaphragm."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005728"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 9072,
      "label": "diaphragmatic hernia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024571",
          "MEDGEN:327154",
          "OMIM:142340",
          "UMLS:C1840643"
        ],
        "synonyms": [
          "diaphragmatic hernia, congenital 1",
          "hernia, congenital diaphragmatic 1",
          "DIH1",
          "diaphragm, complete agenesis of",
          "diaphragm, unilateral agenesis of",
          "diaphragmatic defect, congenital",
          "diaphragmatic hernia, congenital",
          "hemidiaphragm, agenesis of",
          "hernia, congenital diaphragmatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007719"
    },
    {
      "id": 10350,
      "label": "diaphragmatic hernia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015161",
          "MEDGEN:347411",
          "MESH:C565629",
          "OMIM:222400",
          "UMLS:C1857284"
        ],
        "synonyms": [
          "diaphragmatic hernia 2",
          "hernia, congenital diaphragmatic 2",
          "DIH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009103"
    },
    {
      "id": 11755,
      "label": "hernia, anterior diaphragmatic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015295",
          "MEDGEN:334881",
          "MESH:C564413",
          "OMIM:306950",
          "UMLS:C1844025"
        ],
        "synonyms": [
          "hernia, anterior diaphragmatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010606"
    },
    {
      "id": 13481,
      "label": "diaphragmatic hernia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015474",
          "MEDGEN:347546",
          "MESH:C565710",
          "OMIM:610187",
          "UMLS:C1857781"
        ],
        "synonyms": [
          "ZFPM2 congenital diaphragmatic hernia",
          "congenital diaphragmatic hernia caused by mutation in ZFPM2",
          "diaphragmatic hernia 3",
          "diaphragmatic hernia type 3",
          "DIH3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012431"
    },
    {
      "id": 25539,
      "label": "diaphragmatic hernia 4, with cardiovascular defects",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026745",
          "MEDGEN:1823983",
          "OMIM:620025",
          "UMLS:C5774210"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859571"
    }
  ],
  "roots": [
    {
      "id": 7354,
      "label": "diaphragm disorder"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}