{
  "id": 15597,
  "label": "intellectual disability, autosomal dominant 34",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014599",
  "properties": {
    "xrefs": [
      "DOID:0070064",
      "GARD:0025006",
      "MEDGEN:907277",
      "OMIM:616351",
      "UMLS:C4225156"
    ],
    "synonyms": [
      "COL4A3BP autosomal dominant non-syndromic intellectual disability",
      "MRD34",
      "autosomal dominant intellectual disability 34",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP",
      "intellectual developmental disorder, autosomal dominant 34",
      "intellectual disability, autosomal dominant 34",
      "intellectual disability, autosomal dominant type 34",
      "mental retardation, autosomal dominant type 34",
      "autosomal dominant non-syndromic intellectual disability 34",
      "mental retardation, autosomal dominant 34"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16555,
      "label": "autosomal dominant non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060307",
          "GARD:0012107",
          "MEDGEN:1826082",
          "Orphanet:178469",
          "UMLS:C5680502"
        ],
        "synonyms": [
          "autosomal dominant mental retardation",
          "autosomal dominant non-syndromic intellectual disability",
          "non-syndromic intellectual disability, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of non-syndromic intellectual disability."
      },
      "child_count": 52,
      "reference_id": "MONDO:0015802"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16555,
      "label": "autosomal dominant non-syndromic intellectual disability"
    }
  ]
}