{
  "id": 10903,
  "label": "congenital myasthenic syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009689",
  "properties": {
    "xrefs": [
      "DOID:0110671",
      "GARD:0009689",
      "ICD9:358.00",
      "MEDGEN:140751",
      "MESH:C535759",
      "NANDO:1201057",
      "NCIT:C132292",
      "OMIM:254210",
      "SCTID:230670003",
      "UMLS:C0393929"
    ],
    "synonyms": [
      "CHAT congenital myasthenic syndrome",
      "CMS6",
      "CMSEA",
      "FIM",
      "congenital myasthenic syndrome 6",
      "congenital myasthenic syndrome caused by mutation in CHAT",
      "congenital myasthenic syndrome type 6",
      "presynaptic congenital myasthenic syndrome 6",
      "CMS Ia2, formerly",
      "CMS w/episodic apnea",
      "CMS-ea",
      "CMS1A",
      "CMS1A2, formerly",
      "Cms Ia2",
      "Cms Ia2, formerly",
      "FIM, formerly",
      "FIMG2 (formerly)",
      "FIMG2, formerly",
      "congenital myasthenic syndrome type 1a",
      "congenital myasthenic syndrome type Ia",
      "congenital myasthenic syndrome type Ia2, formerly",
      "congenital myasthenic syndrome with episodic apnea",
      "myasthenia familial infantile",
      "myasthenia gravis familial infantile 2 (formerly)",
      "myasthenia gravis, familial infantile, 2",
      "myasthenia gravis, familial infantile, 2, formerly",
      "myasthenia, familial infantile",
      "myasthenia, familial infantile, formerly",
      "myasthenic syndrome congenital associated with episodic apnea",
      "myasthenic syndrome, congenital, 6, presynaptic",
      "myasthenic syndrome, congenital, associated with episodic apnea",
      "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner."
  },
  "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": 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": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 24775,
      "label": "presynaptic congenital myasthenic syndrome"
    }
  ]
}