{
  "id": 11354,
  "label": "VACTERL with hydrocephalus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010172",
  "properties": {
    "xrefs": [
      "GARD:0000272",
      "MEDGEN:376400",
      "OMIM:276950",
      "Orphanet:3412",
      "UMLS:C1848599",
      "icd11.foundation:1646268729"
    ],
    "synonyms": [
      "Sujansky-Leonard syndrome",
      "VACTERL association with hydrocephalus",
      "VACTERL association with hydrocephaly",
      "VACTERL hydrocephaly",
      "VACTERL-H",
      "Vater association with hydrocephalus",
      "Vater association with macrocephaly and ventriculomegaly",
      "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    }
  ],
  "children": [
    {
      "id": 11892,
      "label": "VACTERL association, X-linked, with or without hydrocephalus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        9924,
        11354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111766",
          "GARD:0015309",
          "MEDGEN:419019",
          "OMIM:314390",
          "UMLS:C2931228"
        ],
        "synonyms": [
          "VACTERL association, X-linked, X-linked recessive",
          "VACTERL association, X-linked, with or without hydrocephalus",
          "VACTERL association with hydrocephaly, X-linked",
          "VACTERL-H, X-linked",
          "VACTERLX",
          "X-linked VACTERL-H syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010752"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}