{
  "id": 25059,
  "label": "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800475",
  "properties": {
    "xrefs": [
      "GARD:0027073"
    ],
    "synonyms": [
      "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3324,
      "label": "intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1059",
          "ICD10CM:F70-F79",
          "ICD9:319",
          "MEDGEN:811461",
          "MESH:D008607",
          "NCIT:C97250",
          "Orphanet:319658",
          "SCTID:91138005",
          "UMLS:C3714756",
          "icd11.foundation:605267007"
        ],
        "synonyms": [
          "intellectual disabilities",
          "intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
      },
      "child_count": 10,
      "reference_id": "MONDO:0001071"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 3324,
      "label": "intellectual disability"
    },
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}