{
  "id": 9893,
  "label": "Down syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008608",
  "properties": {
    "xrefs": [
      "DOID:14250",
      "EFO:0001064",
      "ICD10CM:Q90",
      "ICD10WHO:Q90",
      "ICD9:758.0",
      "MEDGEN:4385",
      "MESH:D004314",
      "MedDRA:10044688",
      "NANDO:2200965",
      "NCIT:C2993",
      "OMIM:190685",
      "Orphanet:870",
      "SCTID:41040004",
      "UMLS:C0013080",
      "icd11.foundation:1624623908"
    ],
    "synonyms": [
      "Down syndrome",
      "Down syndrome, Isolated cases",
      "Down's syndrome",
      "leukemia, megakaryoblastic, with or without Down syndrome, somatic",
      "trisomy 21 (Down syndrome)",
      "complete trisomy 21 syndrome",
      "trisomy 21",
      "trisomy 21 syndrome",
      "Down syndrome chromosome region",
      "Down syndrome critical region",
      "leukemia, megakaryoblastic, of Down syndrome",
      "transient myeloproliferative disorder of Down syndrome"
    ],
    "definition": "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 24519,
      "label": "chromosome 21 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 21 is affected."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700124"
    }
  ],
  "children": [
    {
      "id": 24521,
      "label": "trisomy 21",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9893,
        24461
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760825",
          "UMLS:C3537167"
        ],
        "definition": "A chromosomal disorder consisting of the presence of an extra chromosome 21."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700126"
    },
    {
      "id": 24523,
      "label": "translocation Down syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026369",
          "MEDGEN:693553",
          "UMLS:C1269751"
        ],
        "synonyms": [
          "Robertsonian Translocation Trisomy 21"
        ],
        "definition": "Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome."
      },
      "child_count": 3,
      "reference_id": "MONDO:0700128"
    },
    {
      "id": 24525,
      "label": "partial segmental duplication",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3129,
        9893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026371"
        ],
        "synonyms": [
          "segmental duplication",
          "partial trisomy 21"
        ],
        "definition": "A chromosomal disorder consisting of the partial duplication of chromosome 21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700130"
    }
  ],
  "roots": [
    {
      "id": 24519,
      "label": "chromosome 21 disorder"
    }
  ]
}