{
  "id": 12696,
  "label": "congenital myasthenic syndrome 4A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011600",
  "properties": {
    "xrefs": [
      "DOID:0110678",
      "GARD:0015387",
      "MEDGEN:908188",
      "OMIM:605809",
      "UMLS:C4225413"
    ],
    "synonyms": [
      "CMS4A",
      "congenital myasthenic syndrome type 4A",
      "Cms Ia1",
      "Cms Ia1, formerly",
      "congenital myasthenic syndrome type Ia1",
      "congenital myasthenic syndrome type Ia1, formerly",
      "myasthenic syndrome, congenital, 4A, slow-channel"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic 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"
    }
  ]
}