{
  "id": 24525,
  "label": "partial segmental duplication",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700130",
  "properties": {
    "xrefs": [
      "GARD:0026371"
    ],
    "synonyms": [
      "segmental duplication",
      "partial trisomy 21"
    ],
    "definition": "A chromosomal disorder consisting of the partial duplication of chromosome 21."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3129,
      "label": "syndrome caused by partial chromosomal duplication",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060429"
        ],
        "synonyms": [
          "microduplication sydrome",
          "chromosomal duplication syndrome"
        ],
        "definition": "A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome."
      },
      "child_count": 23,
      "reference_id": "MONDO:0000762"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3129,
      "label": "syndrome caused by partial chromosomal duplication"
    },
    {
      "id": 9893,
      "label": "Down syndrome"
    }
  ]
}