{
  "id": 15584,
  "label": "congenital myasthenic syndrome 4B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014586",
  "properties": {
    "xrefs": [
      "DOID:0110677",
      "GARD:0016087",
      "MEDGEN:904424",
      "OMIM:616324",
      "UMLS:C4225369"
    ],
    "synonyms": [
      "CMS4B",
      "congenital myasthenic syndrome type 4B",
      "myasthenic syndrome, congenital, 4B, FAST-channel"
    ],
    "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 progressive muscle weakness, and kinetic abnormalities of the AChR channel 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"
    }
  ]
}