{
  "id": 9851,
  "label": "DiGeorge syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008564",
  "properties": {
    "xrefs": [
      "DOID:11198",
      "GARD:0015118",
      "GTR:AN1145678",
      "ICD10CM:D82.1",
      "ICD9:279.11",
      "MEDGEN:4297",
      "MESH:D004062",
      "NANDO:1200339",
      "NANDO:1200688",
      "NANDO:2200712",
      "NCIT:C2989",
      "OMIM:188400",
      "SCTID:77128003",
      "UMLS:C0012236"
    ],
    "synonyms": [
      "22q deletion syndrome(s)",
      "22q11.2 deletion syndrome",
      "DGS",
      "DGS1",
      "Di-George syndrome",
      "DiGeorge anomaly",
      "DiGeorge syndrome",
      "DiGeorge syndrome type 1",
      "DiGeorge's syndrome",
      "pharyngeal pouch syndrome",
      "Shprintzen syndrome",
      "Sphrintzen",
      "Catch22",
      "DiGeorge syndrome chromosome region",
      "Takao VCF syndrome",
      "VCF",
      "chromosome 22Q11.2 deletion syndrome",
      "hypoplasia of thymus and parathyroids",
      "third and fourth pharyngeal pouch syndrome",
      "velo-cardio-facial syndrome",
      "velocardiofacial syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3462,
      "label": "congenital T-cell immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11200",
          "GARD:0027570",
          "MEDGEN:232099",
          "NCIT:C27872",
          "UMLS:C1333147"
        ],
        "synonyms": [
          "congenital T-cell immunodeficiency",
          "T cell deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective."
      },
      "child_count": 2,
      "reference_id": "MONDO:0001222"
    },
    {
      "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": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    },
    {
      "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": 3462,
      "label": "congenital T-cell immunodeficiency"
    },
    {
      "id": 18847,
      "label": "22q11.2 deletion syndrome"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}