{
  "id": 14680,
  "label": "intellectual disability, autosomal dominant 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013656",
  "properties": {
    "xrefs": [
      "DOID:0070039",
      "GARD:0016459",
      "MEDGEN:1714250",
      "NCIT:C133742",
      "OMIM:614255",
      "Orphanet:662367",
      "UMLS:C5393830"
    ],
    "synonyms": [
      "KIF1A autosomal dominant non-syndromic intellectual disability",
      "MRD9",
      "NESCAV syndrome",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A",
      "intellectual disability, autosomal dominant 9",
      "intellectual disability, autosomal dominant type 9",
      "mental retardation, autosomal dominant type 9",
      "autosomal dominant non-syndromic intellectual disability 9",
      "mental retardation, autosomal dominant 9"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity."
  },
  "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"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "PMID:37259299"
        ],
        "synonyms": [
          "KAND",
          "KIF1A neurological disorder",
          "neurological disorder caused by mutation in KIF1A",
          "neurological disorder caused by variation in KIF1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A"
      },
      "child_count": 3,
      "reference_id": "MONDO:0700055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23914,
      "label": "intellectual disability, autosomal dominant"
    },
    {
      "id": 24451,
      "label": "KIF1A related neurological disorder"
    }
  ]
}