{
  "id": 18847,
  "label": "22q11.2 deletion syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018923",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    },
    {
      "id": 6967,
      "label": "heart disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:114",
          "EFO:0003777",
          "ICD9:429.89",
          "ICD9:429.9",
          "ICD9:V47.2",
          "MEDGEN:5458",
          "MESH:D006331",
          "NCIT:C3079",
          "SCTID:56265001",
          "UMLS:C0018799",
          "icd11.foundation:1512587470"
        ],
        "synonyms": [
          "cardiac disease",
          "disease of heart",
          "disease or disorder of heart",
          "disorder of heart",
          "disorder of heart/pericardium",
          "heart disease",
          "heart disease or disorder",
          "heart disorder",
          "heart trouble",
          "heart/pericardial disease",
          "heart/pericardial disease or disorder",
          "heart/pericardial disorder",
          "heart/pericardial trouble"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A disease involving the heart and/or pericardium."
      },
      "child_count": 34,
      "reference_id": "MONDO:0005267"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 20971,
      "label": "chromosome 22q deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020841",
          "MEDGEN:539297",
          "Orphanet:262182",
          "UMLS:C0265489"
        ],
        "synonyms": [
          "22q deletion",
          "22q monosomy",
          "deletion 22q",
          "monosomy 22q",
          "partial deletion of chromosome 22q",
          "partial deletion of the long arm of chromosome 22",
          "partial deletion of the long arm of chromosome type 22",
          "partial monosomy 22q",
          "partial monosomy of chromosome 22q",
          "partial monosomy of the long arm of chromosome 22"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0022760"
    }
  ],
  "children": [
    {
      "id": 8833,
      "label": "congenital unilateral hypoplasia of depressor anguli oris",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18847
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016557",
          "ICD9:759.89",
          "MEDGEN:140911",
          "OMIM:125520",
          "Orphanet:1166",
          "SCTID:51409009",
          "UMLS:C0431406"
        ],
        "synonyms": [
          "isolated asymmetric crying facies",
          "Cayler cardiofacial syndrome",
          "asymmetric crying facies",
          "depressor anguli oris muscle, hypoplasia of",
          "facial paresis, partial, unilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007443"
    },
    {
      "id": 9851,
      "label": "DiGeorge syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3462,
        18847,
        20691,
        24270,
        24272
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008564"
    },
    {
      "id": 9926,
      "label": "velocardiofacial syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18847,
        24270,
        24272
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008644"
    },
    {
      "id": 13780,
      "label": "chromosome 22q11.2 deletion syndrome, distal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18847
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012740"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 6967,
      "label": "heart disorder"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 20971,
      "label": "chromosome 22q deletion"
    }
  ]
}