{
  "id": 15586,
  "label": "congenital myasthenic syndrome 11",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014588",
  "properties": {
    "xrefs": [
      "DOID:0110675",
      "GARD:0016089",
      "MEDGEN:902189",
      "MESH:C563831",
      "OMIM:616326",
      "UMLS:C4225367"
    ],
    "synonyms": [
      "CMS11",
      "RAPSN congenital myasthenic syndrome",
      "congenital myasthenic syndrome caused by mutation in RAPSN",
      "congenital myasthenic syndrome type 11",
      "Cms Ie",
      "Cms Ie, formerly",
      "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
      "myasthenic syndrome, congenital, Ie",
      "myasthenic syndrome, congenital, Ie, formerly"
    ],
    "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 RAPSN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015022",
          "MEDGEN:199758",
          "Orphanet:98913",
          "UMLS:C0751883"
        ],
        "synonyms": [
          "postsynaptic congenital myasthenic syndromes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0020344"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome"
    }
  ]
}