{
  "id": 24775,
  "label": "presynaptic congenital myasthenic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700466",
  "properties": {
    "xrefs": [
      "GARD:0028048",
      "MEDGEN:155651",
      "Orphanet:98914",
      "UMLS:C0751884"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "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": [
    {
      "id": 10903,
      "label": "congenital myasthenic syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24775
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009689"
    },
    {
      "id": 15062,
      "label": "congenital myasthenic syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110657",
          "GARD:0015908",
          "MEDGEN:815069",
          "OMIM:615120",
          "UMLS:C3808739"
        ],
        "synonyms": [
          "AGRN congenital myasthenic syndrome",
          "CMS8",
          "congenital myasthenic syndrome 8",
          "congenital myasthenic syndrome caused by mutation in AGRN",
          "congenital myasthenic syndrome type 8",
          "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",
          "myasthenic syndrome, congenital, type 8",
          "myasthenic syndrome, congenital, 8",
          "myasthenic syndrome, congenital, due to agrin deficiency",
          "myasthenic syndrome, congenital, with Pre- and postsynaptic defects"
        ],
        "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 AGRN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014052"
    },
    {
      "id": 15467,
      "label": "congenital myasthenic syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110659",
          "GARD:0016053",
          "MEDGEN:863475",
          "OMIM:616040",
          "UMLS:C4015038"
        ],
        "synonyms": [
          "CMS7",
          "SYT2 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in SYT2",
          "congenital myasthenic syndrome type 7",
          "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant",
          "myasthenic syndrome, congenital, 7, presynaptic",
          "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy"
        ],
        "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 SYT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014468"
    },
    {
      "id": 15588,
      "label": "congenital myasthenic syndrome 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110683",
          "GARD:0016091",
          "MEDGEN:906793",
          "OMIM:616330",
          "UMLS:C4225364"
        ],
        "synonyms": [
          "CMS18",
          "SNAP25 congenital myasthenic syndrome",
          "SNAP25-DEE",
          "congenital myasthenic syndrome caused by mutation in SNAP25",
          "congenital myasthenic syndrome type 18",
          "myasthenic syndrome, congenital, 18",
          "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia",
          "myasthenic syndrome, congenital, type 18"
        ],
        "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 SNAP25 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014590"
    },
    {
      "id": 15737,
      "label": "congenital myasthenic syndrome 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110673",
          "GARD:0016153",
          "MEDGEN:897962",
          "OMIM:616720",
          "UMLS:C4225235"
        ],
        "synonyms": [
          "CMS19",
          "COL13A1 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in COL13A1",
          "congenital myasthenic syndrome type 19",
          "myasthenic syndrome, congenital, 19",
          "myasthenic syndrome, congenital, type 19"
        ],
        "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 COL13A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014745"
    },
    {
      "id": 15918,
      "label": "congenital myasthenic syndrome 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110661",
          "GARD:0016202",
          "MEDGEN:934661",
          "OMIM:617143",
          "UMLS:C4310694"
        ],
        "synonyms": [
          "CMS20",
          "SLC5A7 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in SLC5A7",
          "congenital myasthenic syndrome type 20",
          "myasthenic syndrome, congenital, 20, presynaptic"
        ],
        "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 SLC5A7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014939"
    },
    {
      "id": 15960,
      "label": "congenital myasthenic syndrome 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110672",
          "GARD:0016212",
          "MEDGEN:934621",
          "OMIM:617239",
          "UMLS:C4310654"
        ],
        "synonyms": [
          "CMS21",
          "SLC18A3 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in SLC18A3",
          "congenital myasthenic syndrome type 21",
          "myasthenic syndrome, congenital, 21, presynaptic"
        ],
        "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 SLC18A3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014983"
    },
    {
      "id": 22281,
      "label": "myasthenic syndrome, congenital, 23, presynaptic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016308",
          "MEDGEN:1648392",
          "OMIM:618197",
          "UMLS:C4748678"
        ],
        "synonyms": [
          "CMS23",
          "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032596"
    },
    {
      "id": 22282,
      "label": "myasthenic syndrome, congenital, 24, presynaptic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016309",
          "MEDGEN:1648337",
          "OMIM:618198",
          "UMLS:C4748684"
        ],
        "synonyms": [
          "CMS24",
          "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032597"
    },
    {
      "id": 22353,
      "label": "myasthenic syndrome, congenital, 25, presynaptic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016341",
          "MEDGEN:1683288",
          "OMIM:618323",
          "UMLS:C5193027"
        ],
        "synonyms": [
          "myasthenic syndrome, congenital, 25",
          "CMS25",
          "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032675"
    }
  ],
  "roots": [
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome"
    }
  ]
}