{
  "id": 13780,
  "label": "chromosome 22q11.2 deletion syndrome, distal",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012740",
  "properties": {
    "xrefs": [
      "DECIPHER:72",
      "DOID:0060413",
      "GARD:0017245",
      "MEDGEN:395634",
      "MESH:C567511",
      "OMIM:611867",
      "Orphanet:261330",
      "SCTID:734029004",
      "UMLS:C2678480"
    ],
    "synonyms": [
      "chromosome 22q11.2 deletion syndrome, distal",
      "distal 22q11.2 microdeletion syndrome",
      "distal del(22)(q11.2)",
      "distal monosomy 22q11.2",
      "distal 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": "Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome"
    }
  ]
}