{
  "id": 25031,
  "label": "DEAF1-associated neurodevelopmental disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800443",
  "properties": {
    "xrefs": [
      "GARD:0027072"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017965",
          "MEDGEN:1800189",
          "Orphanet:528084",
          "UMLS:C5568766"
        ],
        "synonyms": [
          "complex neurodevelopmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0100038"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 15359,
      "label": "intellectual disability, autosomal dominant 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23914,
        25031
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070054",
          "GARD:0016467",
          "MEDGEN:862851",
          "OMIM:615828",
          "UMLS:C4014414"
        ],
        "synonyms": [
          "DEAF1 autosomal dominant non-syndromic intellectual disability",
          "MRD24",
          "autosomal dominant intellectual disability 24",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1",
          "intellectual disability, autosomal dominant 24",
          "intellectual disability, autosomal dominant type 24",
          "mental retardation, autosomal dominant type 24",
          "autosomal dominant non-syndromic intellectual disability 24",
          "mental retardation, autosomal dominant 24"
        ],
        "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 DEAF1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014357"
    },
    {
      "id": 15931,
      "label": "intellectual disability-epilepsy-extrapyramidal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        25031
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013474",
          "MEDGEN:934650",
          "OMIM:617171",
          "Orphanet:468620",
          "UMLS:C4310683"
        ],
        "synonyms": [
          "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures",
          "DYSEIDD",
          "dyskinesia, seizures, and intellectual developmental disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014952"
    }
  ],
  "roots": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}