{
  "id": 14895,
  "label": "congenital myasthenic syndrome 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013883",
  "properties": {
    "xrefs": [
      "DOID:0110676",
      "GARD:0018452",
      "MEDGEN:766559",
      "OMIM:614750",
      "UMLS:C3553645"
    ],
    "synonyms": [
      "CMS13",
      "CMSTA2",
      "DPAGT1 congenital myasthenic syndromes with glycosylation defect",
      "congenital myasthenic syndrome type 13",
      "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1",
      "myasthenic syndrome, congenital, 13, with tubular aggregates",
      "myasthenic syndrome, congenital, type 13",
      "myasthenic syndrome, congenital, 13",
      "myasthenic syndrome, congenital, with tubular aggregates 2"
    ],
    "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 DPAGT1 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2761,
      "label": "congenital myasthenic syndrome with tubular aggregates"
    }
  ]
}