{
  "id": 19747,
  "label": "neuromuscular junction disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020124",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 18957,
      "label": "neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:440",
          "EFO:1001902",
          "ICD9:358",
          "ICD9:358.9",
          "MEDGEN:10323",
          "MESH:D009468",
          "MedDRA:10029323",
          "NANDO:1100001",
          "NANDO:2100214",
          "Orphanet:68381",
          "UMLS:C0027868"
        ],
        "synonyms": [
          "nerve and muscle disorder",
          "neuromuscular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions"
      },
      "child_count": 8,
      "reference_id": "MONDO:0019056"
    },
    {
      "id": 20268,
      "label": "synaptopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease caused by dysfunction of synapses."
      },
      "child_count": 1,
      "reference_id": "MONDO:0021017"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 18957,
      "label": "neuromuscular disease"
    },
    {
      "id": 20268,
      "label": "synaptopathy"
    }
  ]
}