{
  "id": 24521,
  "label": "trisomy 21",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700126",
  "properties": {
    "xrefs": [
      "MEDGEN:760825",
      "UMLS:C3537167"
    ],
    "definition": "A chromosomal disorder consisting of the presence of an extra chromosome 21."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 9893,
      "label": "Down syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24519
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008608"
    },
    {
      "id": 24461,
      "label": "trisomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:21702",
          "MESH:D014314",
          "NCIT:C3421",
          "UMLS:C0041107"
        ],
        "synonyms": [
          "chromosomal triplication"
        ],
        "definition": "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."
      },
      "child_count": 23,
      "reference_id": "MONDO:0700065"
    }
  ],
  "children": [
    {
      "id": 24428,
      "label": "complete trisomy 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24521
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1624021",
          "UMLS:C4521042"
        ],
        "synonyms": [
          "standard trisomy 21"
        ],
        "definition": "Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700030"
    },
    {
      "id": 24522,
      "label": "mosaic trisomy 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24521
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026368",
          "MEDGEN:419386",
          "UMLS:C2931324"
        ],
        "definition": "Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700127"
    }
  ],
  "roots": [
    {
      "id": 9893,
      "label": "Down syndrome"
    },
    {
      "id": 24461,
      "label": "trisomy"
    }
  ]
}