{
  "id": 15840,
  "label": "intellectual disability, autosomal dominant 43",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014858",
  "properties": {
    "xrefs": [
      "DOID:0070073",
      "GARD:0013179",
      "MEDGEN:1640004",
      "OMIM:616977",
      "SCTID:765434008",
      "UMLS:C4707429"
    ],
    "synonyms": [
      "HIVEP2 autosomal dominant non-syndromic intellectual disability",
      "MRD43",
      "autosomal dominant intellectual disability 43",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2",
      "intellectual disability, autosomal dominant 43",
      "intellectual disability, autosomal dominant type 43",
      "mental retardation, autosomal dominant 43",
      "mental retardation, autosomal dominant type 43",
      "HIVEP2-related intellectual disability",
      "autosomal dominant intellectual disability-43",
      "autosomal dominant non-syndromic intellectual disability 43"
    ],
    "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 HIVEP2 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"
    }
  ]
}