{
  "id": 15580,
  "label": "congenital myasthenic syndrome 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014582",
  "properties": {
    "xrefs": [
      "DOID:0110680",
      "GARD:0016083",
      "MEDGEN:903254",
      "OMIM:616314",
      "UMLS:C4225373"
    ],
    "synonyms": [
      "CMS2C",
      "congenital myasthenic syndrome type 2C",
      "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
  },
  "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"
    }
  ]
}