{
  "id": 15588,
  "label": "congenital myasthenic syndrome 18",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014590",
  "properties": {
    "xrefs": [
      "DOID:0110683",
      "GARD:0016091",
      "MEDGEN:906793",
      "OMIM:616330",
      "UMLS:C4225364"
    ],
    "synonyms": [
      "CMS18",
      "SNAP25 congenital myasthenic syndrome",
      "SNAP25-DEE",
      "congenital myasthenic syndrome caused by mutation in SNAP25",
      "congenital myasthenic syndrome type 18",
      "myasthenic syndrome, congenital, 18",
      "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia",
      "myasthenic syndrome, congenital, type 18"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 24775,
      "label": "presynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028048",
          "MEDGEN:155651",
          "Orphanet:98914",
          "UMLS:C0751884"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0700466"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 24775,
      "label": "presynaptic congenital myasthenic syndrome"
    }
  ]
}