{
  "id": 15542,
  "label": "congenital myasthenic syndrome 14",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014543",
  "properties": {
    "xrefs": [
      "DOID:0110669",
      "GARD:0018454",
      "MEDGEN:864034",
      "OMIM:616228",
      "UMLS:C4015597"
    ],
    "synonyms": [
      "ALG2 congenital myasthenic syndromes with glycosylation defect",
      "CMS14",
      "CMSTA3",
      "congenital myasthenic syndrome 14",
      "congenital myasthenic syndrome type 14",
      "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2",
      "myasthenic syndrome, congenital, 14, with tubular aggregates",
      "myasthenic syndrome, congenital, type 14",
      "myasthenic syndrome, congenital, 14",
      "myasthenic syndrome, congenital, with tubular aggregates 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2761,
      "label": "congenital myasthenic syndrome with tubular aggregates",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022723",
          "OMIMPS:610542"
        ],
        "synonyms": [
          "CMS-TA",
          "myasthenic syndrome, congenital, with tubular aggregates"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000182"
    },
    {
      "id": 13007,
      "label": "ALG2-congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7156,
        17973
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080561",
          "GARD:0009836",
          "MEDGEN:334618",
          "OMIM:607906",
          "Orphanet:79326",
          "UMLS:C1842836"
        ],
        "synonyms": [
          "ALG2-CDG",
          "ALG2-congenital disorder of glycosylation",
          "CDG 1I",
          "CDG Ii",
          "CDG syndrome type Ii",
          "CDG1I",
          "carbohydrate deficient glycoprotein syndrome type Ii",
          "congenital disorder of glycosylation type 1i",
          "congenital disorder of glycosylation type Ii",
          "congenital disorder of glycosylation, type Ii",
          "mannosyltransferase 2 deficiency",
          "ALG2-CDG (CDG-II)",
          "carbohydrate-deficient glycoprotein syndrome type 1I"
        ],
        "definition": "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011933"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2761,
      "label": "congenital myasthenic syndrome with tubular aggregates"
    },
    {
      "id": 13007,
      "label": "ALG2-congenital disorder of glycosylation"
    }
  ]
}