{
  "id": 13566,
  "label": "congenital myasthenic syndrome 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012518",
  "properties": {
    "xrefs": [
      "DOID:0110660",
      "GARD:0018451",
      "MEDGEN:765249",
      "NCIT:C168997",
      "OMIM:610542",
      "UMLS:C3552335"
    ],
    "synonyms": [
      "CMS12",
      "GFPT1 congenital myasthenic syndromes with glycosylation defect",
      "congenital myasthenic syndrome type 12",
      "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1",
      "myasthenia, congenital, 12, with tubular aggregates",
      "myasthenic syndrome, congenital, type 12",
      "myasthenic syndrome, congenital, 12",
      "myasthenic syndrome, congenital, with tubular aggregates 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2761,
      "label": "congenital myasthenic syndrome with tubular aggregates",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022723",
          "OMIMPS:610542"
        ],
        "synonyms": [
          "CMS-TA",
          "myasthenic syndrome, congenital, with tubular aggregates"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000182"
    },
    {
      "id": 21354,
      "label": "disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of glycosylation",
          "glycosylation disease"
        ],
        "definition": "A disease that has its basis in the disruption of glycosylation."
      },
      "child_count": 4,
      "reference_id": "MONDO:0024322"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2761,
      "label": "congenital myasthenic syndrome with tubular aggregates"
    },
    {
      "id": 21354,
      "label": "disorder of glycosylation"
    }
  ]
}