{
  "id": 18120,
  "label": "exstrophy-epispadias complex",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017919",
  "properties": {
    "xrefs": [
      "DOID:0080173",
      "GARD:0002207",
      "MEDGEN:338020",
      "NCIT:C99142",
      "OMIM:258040",
      "Orphanet:322",
      "UMLS:C1850321"
    ],
    "synonyms": [
      "EEC",
      "OEIS complex",
      "OEIS syndrome",
      "BEEC",
      "bladder exstrophy-epispadias-cloacal extrophy complex"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6948,
      "label": "kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4253
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:557",
          "EFO:0003086",
          "ICD9:583.81",
          "MEDGEN:9635",
          "MESH:D007674",
          "NCIT:C3149",
          "SCTID:90708001",
          "UMLS:C0022658"
        ],
        "synonyms": [
          "disease of kidney",
          "disease or disorder of kidney",
          "disorder of kidney",
          "kidney disease",
          "kidney disease or disorder",
          "kidney disorder",
          "renal disease",
          "renal disorder",
          "nephropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A disease involving the kidney."
      },
      "child_count": 57,
      "reference_id": "MONDO:0005240"
    },
    {
      "id": 19192,
      "label": "urogenital tract malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019029",
          "ICD10CM:Q60-Q64",
          "MEDGEN:52948",
          "Orphanet:83001",
          "UMLS:C0042063"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0019356"
    }
  ],
  "children": [
    {
      "id": 10984,
      "label": "cloacal exstrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080175",
          "GARD:0004080",
          "HP:0010475",
          "ICD9:759.89",
          "MEDGEN:83377",
          "MESH:C537748",
          "MedDRA:10067424",
          "NANDO:1200909",
          "NANDO:1200910",
          "NANDO:2200950",
          "NANDO:2200951",
          "Orphanet:93929",
          "SCTID:20815007",
          "UMLS:C0345217",
          "icd11.foundation:2004612103"
        ],
        "synonyms": [
          "cloacal exstrophy",
          "cloacal exstrophy (disease)",
          "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome",
          "OEIS complex",
          "OEIS syndrome",
          "cloacal exstrophy sequence",
          "omphalocele - cloacal exstrophy - imperforate anus - spinal defect",
          "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects",
          "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex",
          "omphalocele-exstrophy-imperforate anus-spinal defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009774"
    },
    {
      "id": 11941,
      "label": "bladder exstrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080174",
          "GARD:0006398",
          "HP:0002836",
          "ICD9:753.5",
          "MEDGEN:2661",
          "MESH:D001746",
          "NCIT:C123207",
          "NORD:860",
          "Orphanet:93930",
          "SCTID:61758007",
          "UMLS:C0005689",
          "icd11.foundation:1927556258"
        ],
        "synonyms": [
          "Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex",
          "bladder exstrophy",
          "bladder exstrophy (disease)",
          "classic exstrophy of the bladder",
          "ectopia vesicae",
          "bladder exstrophy and epispadias Complex",
          "exstrophy of bladder",
          "exstrophy of the bladder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010805"
    },
    {
      "id": 19510,
      "label": "epispadias",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019235",
          "HP:0000039",
          "ICD10CM:Q64.0",
          "ICD9:752.62",
          "MEDGEN:41839",
          "MESH:D004842",
          "MedDRA:10015088",
          "NCIT:C98923",
          "Orphanet:93928",
          "SCTID:406476007",
          "UMLS:C0014588",
          "icd11.foundation:397402420"
        ],
        "synonyms": [
          "epispadias",
          "epispadias (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019759"
    },
    {
      "id": 24437,
      "label": "bladder exstrophy-epispadias-cloacal extrophy complex",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18120
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026333",
          "MEDGEN:374033",
          "OMIM:600057",
          "UMLS:C1838703"
        ],
        "synonyms": [
          "BEEC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700039"
    }
  ],
  "roots": [
    {
      "id": 6948,
      "label": "kidney disorder"
    },
    {
      "id": 19192,
      "label": "urogenital tract malformation"
    }
  ]
}