{
  "id": 15918,
  "label": "congenital myasthenic syndrome 20",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014939",
  "properties": {
    "xrefs": [
      "DOID:0110661",
      "GARD:0016202",
      "MEDGEN:934661",
      "OMIM:617143",
      "UMLS:C4310694"
    ],
    "synonyms": [
      "CMS20",
      "SLC5A7 congenital myasthenic syndrome",
      "congenital myasthenic syndrome caused by mutation in SLC5A7",
      "congenital myasthenic syndrome type 20",
      "myasthenic syndrome, congenital, 20, presynaptic"
    ],
    "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 SLC5A7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24775,
      "label": "presynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028048",
          "MEDGEN:155651",
          "Orphanet:98914",
          "UMLS:C0751884"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0700466"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24775,
      "label": "presynaptic congenital myasthenic syndrome"
    }
  ]
}