{
  "id": 9926,
  "label": "velocardiofacial syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008644",
  "properties": {
    "xrefs": [
      "DOID:12583",
      "GARD:0015123",
      "ICD9:758.32",
      "MEDGEN:65085",
      "NANDO:1200339",
      "NANDO:1200688",
      "NANDO:2200712",
      "OMIM:192430",
      "UMLS:C0220704"
    ],
    "synonyms": [
      "22q11 deletion syndrome",
      "Shprintzen VCF syndrome",
      "VCF syndrome",
      "deletion 22q11.2 syndrome",
      "velocardiofacial syndrome",
      "Shprintzen syndrome",
      "chromosome 22Q11.2 deletion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6778,
        6967,
        16088,
        20971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:16",
          "GARD:0010299",
          "MedDRA:10012979",
          "MedDRA:10066430",
          "NANDO:1200339",
          "NANDO:1200688",
          "NANDO:2200712",
          "NORD:853",
          "Orphanet:567",
          "icd11.foundation:1868156761"
        ],
        "synonyms": [
          "22q11DS",
          "Cayler cardiofacial syndrome",
          "Chromosome 22q11.2 Deletion Syndrome",
          "Sedlackova syndrome",
          "Shprintzen syndrome",
          "Takao syndrome",
          "catch 22",
          "conotruncal anomaly face syndrome",
          "microdeletion 22q11.2",
          "monosomy 22q11",
          "DiGeorge sequence",
          "DiGeorge syndrome",
          "VCFS",
          "velocardiofacial syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency."
      },
      "child_count": 20,
      "reference_id": "MONDO:0018923"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}