{
  "id": 18862,
  "label": "congenital myasthenic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018940",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19747,
      "label": "neuromuscular junction disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        20268
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:439",
          "GARD:0019473",
          "MEDGEN:155665",
          "MESH:D020511",
          "Orphanet:98491",
          "SCTID:128213006",
          "UMLS:C0751950"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020124"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [
    {
      "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": 10901,
      "label": "myasthenia, congenital, refractory to acetylcholinesterase inhibitors",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009687"
    },
    {
      "id": 12399,
      "label": "congenital myasthenic syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18862
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011281"
    },
    {
      "id": 15541,
      "label": "congenital myasthenic syndrome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18862,
        24284
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110658",
          "GARD:0018453",
          "MEDGEN:864033",
          "OMIM:616227",
          "UMLS:C4015596"
        ],
        "synonyms": [
          "ALG14 congenital myasthenic syndrome",
          "CMS15",
          "congenital myasthenic syndrome caused by mutation in ALG14",
          "congenital myasthenic syndrome type 15",
          "myasthenic syndrome, congenital, 15, without tubular aggregates",
          "myasthenic syndrome, congenital, type 15",
          "myasthenic syndrome, congenital, 15",
          "myasthenic syndrome, congenital, without tubular aggregates"
        ],
        "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 ALG14 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014542"
    },
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015022",
          "MEDGEN:199758",
          "Orphanet:98913",
          "UMLS:C0751883"
        ],
        "synonyms": [
          "postsynaptic congenital myasthenic syndromes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0020344"
    },
    {
      "id": 21895,
      "label": "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025545",
          "MEDGEN:1794157",
          "OMIM:619461",
          "UMLS:C5561947"
        ],
        "synonyms": [
          "CMS7B",
          "myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030341"
    },
    {
      "id": 23303,
      "label": "myasthenic syndrome, congenital, 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080587",
          "GARD:0025886",
          "MEDGEN:1393545",
          "OMIM:616224",
          "UMLS:C4479088"
        ],
        "synonyms": [
          "myasthenic syndrome, congenital, 22",
          "CMS22",
          "Prepl deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044299"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19747,
      "label": "neuromuscular junction disease"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}