{
  "id": 20780,
  "label": "Arroyo Garcia Cimadevilla syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021923",
  "properties": {
    "xrefs": [
      "MEDGEN:419817",
      "MESH:C537439",
      "UMLS:C2931494"
    ],
    "synonyms": [
      "bilateral anophthalmia, esophageal atresia, and right cryptorchidism"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3301,
      "label": "esophageal atresia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5629
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10485",
          "HP:0002032",
          "ICD9:750.3",
          "MEDGEN:4545",
          "MESH:D004933",
          "NCIT:C87072",
          "SCTID:26179002",
          "UMLS:C0014850"
        ],
        "synonyms": [
          "congenital atresia of esophagus",
          "congenital atresia of oesophagus",
          "congenital esophageal atresia",
          "congenital imperforate oesophagus",
          "esophageal atresia",
          "esophageal atresia (disease)",
          "imperforate oesophagus"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed."
      },
      "child_count": 1,
      "reference_id": "MONDO:0001044"
    },
    {
      "id": 10298,
      "label": "cryptorchidism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5121,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11383",
          "EFO:0004562",
          "HP:0000028",
          "ICD9:752.5",
          "ICD9:752.51",
          "MEDGEN:8192",
          "MESH:D003456",
          "NCIT:C12326",
          "OMIM:219050",
          "SCTID:204878001",
          "UMLS:C0010417",
          "icd11.foundation:1134950387"
        ],
        "synonyms": [
          "cryptorchidism",
          "cryptorchidism (disease)",
          "undescended testes",
          "undescended testicle",
          "undescended testis",
          "cryptorchidism, unilateral or bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009047"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3301,
      "label": "esophageal atresia"
    },
    {
      "id": 10298,
      "label": "cryptorchidism"
    }
  ]
}