{
  "id": 13220,
  "label": "congenital myasthenic syndrome 4C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012157",
  "properties": {
    "xrefs": [
      "DOID:0110679",
      "GARD:0010108",
      "MEDGEN:373251",
      "OMIM:608931",
      "UMLS:C1837091"
    ],
    "synonyms": [
      "CMS4C",
      "congenital myasthenic syndrome type 4C",
      "Cms Id",
      "Cms Id, formerly",
      "congenital myasthenic syndrome associated with acetylcholine receptor deficiency",
      "myasthenia, familial infantile, 1",
      "myasthenia, familial infantile, 1, formerly",
      "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency",
      "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency",
      "myasthenic syndrome, congenital, type Id"
    ],
    "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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 29252,
      "label": "congenital myasthenic syndrome 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027234"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040021"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 29252,
      "label": "congenital myasthenic syndrome 4"
    }
  ]
}