{
  "id": 14645,
  "label": "congenital myasthenic syndrome 16",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013620",
  "properties": {
    "xrefs": [
      "DOID:0110682",
      "GARD:0015771",
      "MEDGEN:481742",
      "OMIM:614198",
      "UMLS:C3280112"
    ],
    "synonyms": [
      "CMS16",
      "SCN4A congenital myasthenic syndrome",
      "congenital myasthenic syndrome caused by mutation in SCN4A",
      "congenital myasthenic syndrome type 16",
      "myasthenic syndrome, congenital, type 16",
      "myasthenic syndrome, congenital, 16",
      "myasthenic syndrome, congenital, Acetazolamide-responsive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "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 SCN4A 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"
    },
    {
      "id": 23870,
      "label": "SCN4A-related myopathy, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026053"
        ],
        "synonyms": [
          "SCN4A-related myopathy, autosomal recessive",
          "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis",
          "congenital myopathy with severe fetal hypokinesia",
          "congenital myopathy with severe foetal hypokinesia",
          "myopathy with ptosis and mild dystrophic pattern"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100121"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome"
    },
    {
      "id": 23870,
      "label": "SCN4A-related myopathy, autosomal recessive"
    }
  ]
}