{
  "id": 11892,
  "label": "VACTERL association, X-linked, with or without hydrocephalus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010752",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 9924,
      "label": "VACTERL/vater association",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14679",
          "GARD:0005443",
          "ICD9:759.89",
          "MEDGEN:902479",
          "MedDRA:10053665",
          "MedDRA:10066022",
          "NANDO:1200657",
          "NANDO:2200983",
          "NCIT:C99105",
          "NORD:1818",
          "OMIM:192350",
          "Orphanet:887",
          "SCTID:27742002",
          "UMLS:C4225671",
          "icd11.foundation:1452617987"
        ],
        "synonyms": [
          "VACTERL Association",
          "VACTERL association",
          "VATER association",
          "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome",
          "VATER/VACTERL association"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."
      },
      "child_count": 1,
      "reference_id": "MONDO:0008642"
    },
    {
      "id": 11354,
      "label": "VACTERL with hydrocephalus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 9924,
      "label": "VACTERL/vater association"
    },
    {
      "id": 11354,
      "label": "VACTERL with hydrocephalus"
    }
  ]
}