{
  "id": 24523,
  "label": "translocation Down syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700128",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 24478,
      "label": "Robertsonian translocation Down syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026350",
          "MEDGEN:1816520",
          "NCIT:C188150",
          "UMLS:C5707615"
        ],
        "definition": "Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700082"
    },
    {
      "id": 24479,
      "label": "reciprocal translocation down syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026351"
        ],
        "definition": "Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700083"
    },
    {
      "id": 24524,
      "label": "mosaic translocation Down syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026370"
        ],
        "definition": "Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700129"
    }
  ],
  "roots": [
    {
      "id": 9893,
      "label": "Down syndrome"
    }
  ]
}