{
  "id": 9302,
  "label": "intellectual disability, autosomal dominant 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007974",
  "properties": {
    "xrefs": [
      "DOID:0070031",
      "GARD:0018623",
      "MEDGEN:409857",
      "MESH:C566947",
      "NCIT:C141424",
      "OMIM:156200",
      "UMLS:C1969562"
    ],
    "synonyms": [
      "MBD5 autosomal dominant non-syndromic intellectual disability",
      "MRD1",
      "autosomal dominant intellectual disability 1",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5",
      "intellectual disability, autosomal dominant 1",
      "intellectual disability, autosomal dominant type 1",
      "mental retardation, autosomal dominant type 1",
      "autosomal dominant non-syndromic intellectual disability 1",
      "chromosome 2Q23.1 deletion syndrome",
      "mental retardation, autosomal dominant 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3324,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:156200"
        ],
        "synonyms": [
          "mental retardation, autosomal dominant",
          "autosomal dominant intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 87,
      "reference_id": "MONDO:0100172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant"
    }
  ]
}