{
  "id": 12214,
  "label": "congenital myasthenic syndrome 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011088",
  "properties": {
    "xrefs": [
      "DOID:0110663",
      "GARD:0015330",
      "MEDGEN:419336",
      "OMIM:601462",
      "UMLS:C2931107"
    ],
    "synonyms": [
      "CHRNA1 congenital myasthenic syndrome",
      "CMS1A",
      "congenital myasthenic syndrome caused by mutation in CHRNA1",
      "congenital myasthenic syndrome type 1A",
      "Cms IIa",
      "Cms IIa, formerly",
      "myasthenic syndrome, congenital, 1A, slow-channel",
      "myasthenic syndrome, congenital, type IIa",
      "myasthenic syndrome, congenital, type IIa, formerly"
    ],
    "categories": [
      {
        "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 CHRNA1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 13219,
      "label": "myasthenic syndrome, congenital, 1B, fast-channel",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12214
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110662",
          "GARD:0015445",
          "MEDGEN:909200",
          "OMIM:608930",
          "UMLS:C4225405"
        ],
        "synonyms": [
          "CMS1B",
          "congenital myasthenic syndrome type 1B",
          "myasthenic syndrome, congenital, 1B, fast-channel",
          "congenital myasthenic syndrome 1B",
          "myasthenic syndrome, congenital, 1B, FAST-channel"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012156"
    }
  ],
  "roots": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome"
    }
  ]
}