{
  "id": 15467,
  "label": "congenital myasthenic syndrome 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014468",
  "properties": {
    "xrefs": [
      "DOID:0110659",
      "GARD:0016053",
      "MEDGEN:863475",
      "OMIM:616040",
      "UMLS:C4015038"
    ],
    "synonyms": [
      "CMS7",
      "SYT2 congenital myasthenic syndrome",
      "congenital myasthenic syndrome caused by mutation in SYT2",
      "congenital myasthenic syndrome type 7",
      "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant",
      "myasthenic syndrome, congenital, 7, presynaptic",
      "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy"
    ],
    "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 SYT2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24775,
      "label": "presynaptic congenital myasthenic syndrome"
    }
  ]
}