{
  "id": 11508,
  "label": "epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010339",
  "properties": {
    "xrefs": [
      "DOID:0112122",
      "GARD:0016748",
      "MEDGEN:1823951",
      "MESH:C564505",
      "OMIM:300491",
      "Orphanet:85294",
      "UMLS:C5774177"
    ],
    "synonyms": [
      "X-linked epilepsy-learning disabilities-behavior disorders syndrome",
      "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant",
      "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant",
      "epilepsy, X-linked, with variable learning disabilities and behavior disorders",
      "epilepsy, X-linked, with variable learning disabilities and behaviour disorders"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 25510,
      "label": "epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16437,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026729",
          "OMIMPS:300491"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0859390"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 25510,
      "label": "epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features"
    }
  ]
}