{
  "id": 23711,
  "label": "neurodevelopmental disorder with severe motor impairment and absent language",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0060622",
  "properties": {
    "xrefs": [
      "GARD:0013608",
      "MEDGEN:1622162",
      "OMIM:617804",
      "Orphanet:647788",
      "UMLS:C4540496"
    ],
    "synonyms": [
      "DHX30-related complex neurodevelopmental disorder",
      "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome",
      "neurodevelopmental disorder with severe motor impairment and absent language",
      "NEDMIAL"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 23791,
      "label": "complex neurodevelopmental disorder"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}