{
  "id": 24241,
  "label": "complex neurodevelopmental disorder with motor features",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100516",
  "properties": {
    "xrefs": [
      "GARD:0027067"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    }
  ],
  "children": [
    {
      "id": 15339,
      "label": "complex cortical dysplasia with other brain malformations 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3180,
        23895,
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090135",
          "GARD:0027070",
          "GARD:0027859",
          "MEDGEN:816737",
          "OMIM:615763",
          "UMLS:C3810407"
        ],
        "synonyms": [
          "CDCBM5",
          "TUBB2A complex cortical dysplasia with other brain malformations",
          "TUBB2A-related tubulinopathy",
          "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A",
          "complex cortical dysplasia with other brain malformations type 5",
          "cortical dysplasia, Complex, with Other brain malformations type 5",
          "cortical dysplasia, complex, with other brain malformations 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014337"
    },
    {
      "id": 15799,
      "label": "cerebellar atrophy, visual impairment, and psychomotor retardation;",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081276",
          "GARD:0027055",
          "MEDGEN:905041",
          "OMIM:616875",
          "UMLS:C4225172"
        ],
        "synonyms": [
          "CAVIPMR",
          "cerebellar atrophy, visual impairment, and psychomotor retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014811"
    },
    {
      "id": 15844,
      "label": "cerebral palsy, spastic quadriplegic, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16798,
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081361",
          "GARD:0018310",
          "MEDGEN:934734",
          "OMIM:617008",
          "UMLS:C4310767"
        ],
        "synonyms": [
          "ADD3 spastic quadriplegia",
          "CPSQ3",
          "cerebral palsy, spastic quadriplegic, 3",
          "cerebral palsy, spastic quadriplegic, 3; CPSQ3",
          "cerebral palsy, spastic quadriplegic, type 3",
          "spastic quadriplegia caused by mutation in ADD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014862"
    },
    {
      "id": 23992,
      "label": "CACNA1A-related complex neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226,
        24241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027064"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100254"
    }
  ],
  "roots": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    }
  ]
}