{
  "id": 10901,
  "label": "myasthenia, congenital, refractory to acetylcholinesterase inhibitors",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009687",
  "properties": {
    "xrefs": [
      "GARD:0024687",
      "MEDGEN:338127",
      "MESH:C564979",
      "OMIM:254190",
      "UMLS:C1850806"
    ],
    "synonyms": [
      "myasthenia, congenital, refractory to acetylcholinesterase inhibitors"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19747,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3635",
          "GARD:0011902",
          "ICD9:358.00",
          "ICD9:V17.89",
          "MEDGEN:155650",
          "MESH:D020294",
          "NANDO:1200021",
          "NCIT:C84647",
          "NORD:1893",
          "OMIMPS:601462",
          "Orphanet:590",
          "SCTID:230672006",
          "UMLS:C0751882",
          "icd11.foundation:1515367530"
        ],
        "synonyms": [
          "CMS",
          "Congenital Myasthenic Syndromes",
          "myasthenic syndrome, congenital",
          "congenital MG",
          "congenital myasthenia",
          "erb-Goldflam syndrome",
          "familial limb-girdle myasthenia",
          "myasthenia gravis congenital",
          "myasthenia gravis pseudoparalytica"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018940"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome"
    }
  ]
}