{
  "id": 19938,
  "label": "myotonia fluctuans",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020481",
  "properties": {
    "xrefs": [
      "GARD:0016904",
      "MEDGEN:156269",
      "NCIT:C122789",
      "Orphanet:99734",
      "SCTID:715788001",
      "UMLS:C0752355",
      "icd11.foundation:1294270721"
    ],
    "synonyms": [
      "Fluctuating myotonia",
      "MF",
      "exercise-induced delayed-onset myotonia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18881,
      "label": "potassium-aggravated myotonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16737,
        24618,
        25054
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004459",
          "MEDGEN:444151",
          "MESH:C538353",
          "NANDO:1200500",
          "NCIT:C122788",
          "OMIM:608390",
          "Orphanet:612",
          "SCTID:702355008",
          "UMLS:C2931826",
          "icd11.foundation:1707250468"
        ],
        "synonyms": [
          "K+-aggravated myotonia",
          "K-aggravated myotonia",
          "PAM",
          "Potassium aggravated myotonia",
          "myotonia congenita, atypical, acetazolamide-responsive",
          "Laryngospasm, Severe Neonatal Episodic",
          "MYOTONIA, POTASSIUM-AGGRAVATED",
          "Myotonia Congenita, Acetazolamide-Responsive",
          "Myotonia Congenita, Atypical",
          "Myotonia Fluctuans",
          "Myotonia Permanens",
          "Sodium Channel Muscle Disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018959"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18881,
      "label": "potassium-aggravated myotonia"
    }
  ]
}