{
  "id": 17438,
  "label": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017056",
  "properties": {
    "xrefs": [
      "GARD:0020947",
      "MEDGEN:1673021",
      "Orphanet:268261",
      "UMLS:C5191008"
    ],
    "synonyms": [
      "21q22.13-q22.2 microdeletion syndrome",
      "21q22.13q22.2 microdeletion syndrome",
      "Del(21)(q22.13q22.2)",
      "monosomy 21q22.13-q22.2",
      "monosomy 21q22.13q22.2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14606,
      "label": "DYRK1A-related intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070037",
          "GARD:0013527",
          "MEDGEN:1799566",
          "OMIM:614104",
          "Orphanet:464306",
          "UMLS:C5568143"
        ],
        "synonyms": [
          "MRD7",
          "autosomal dominant intellectual disability 7",
          "intellectual disability, autosomal dominant type 7",
          "mental retardation, autosomal dominant type 7",
          "autosomal dominant non-syndromic intellectual disability 7",
          "intellectual disability, autosomal dominant 7",
          "mental retardation, autosomal dominant 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."
      },
      "child_count": 6,
      "reference_id": "MONDO:0013578"
    },
    {
      "id": 17337,
      "label": "partial deletion of the long arm of chromosome 21",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1825976",
          "Orphanet:262173",
          "UMLS:C5679731"
        ],
        "synonyms": [
          "partial deletion of chromosome 21q",
          "partial deletion of the long arm of chromosome type 21",
          "partial monosomy of chromosome 21q",
          "partial monosomy of the long arm of chromosome 21"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016919"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14606,
      "label": "DYRK1A-related intellectual disability syndrome"
    },
    {
      "id": 17337,
      "label": "partial deletion of the long arm of chromosome 21"
    }
  ]
}