{
  "id": 12399,
  "label": "congenital myasthenic syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011281",
  "properties": {
    "xrefs": [
      "DOID:0110667",
      "GARD:0018210",
      "MEDGEN:400481",
      "MESH:C566415",
      "NANDO:1201056",
      "NCIT:C129304",
      "OMIM:603034",
      "Orphanet:98915",
      "UMLS:C1864233"
    ],
    "synonyms": [
      "CMS5",
      "COLQ congenital myasthenic syndrome",
      "EAD",
      "Engel congenital myasthenic syndrome",
      "congenital myasthenic syndrome 5",
      "congenital myasthenic syndrome caused by mutation in COLQ",
      "congenital myasthenic syndrome type 5",
      "myasthenic syndrome, congenital, type 5",
      "Cms Ic",
      "Cms Ic, formerly",
      "congenital myasthenic syndrome type Ic, formerly",
      "endplate acetylcholinesterase deficiency",
      "myasthenic syndrome, congenital, 5",
      "myasthenic syndrome, congenital, Engel type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 18862,
      "label": "congenital myasthenic syndrome"
    }
  ]
}