{
  "id": 18881,
  "label": "potassium-aggravated myotonia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018959",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16737,
      "label": "myotonic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020372",
          "MEDGEN:107510",
          "MESH:D020967",
          "MedDRA:10028658",
          "Orphanet:206970",
          "UMLS:C0553604"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0016120"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    },
    {
      "id": 25054,
      "label": "SCN4A-related channelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026568"
        ],
        "synonyms": [
          "SCN4A-related channelopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis."
      },
      "child_count": 8,
      "reference_id": "MONDO:0800468"
    }
  ],
  "children": [
    {
      "id": 19938,
      "label": "myotonia fluctuans",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18881
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020481"
    },
    {
      "id": 19939,
      "label": "myotonia permanens",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18881
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016905",
          "MEDGEN:1845910",
          "Orphanet:99735",
          "SCTID:715789009",
          "UMLS:C5848361",
          "icd11.foundation:2133644550"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020482"
    },
    {
      "id": 19940,
      "label": "acetazolamide-responsive myotonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18881
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016906",
          "MEDGEN:902539",
          "Orphanet:99736",
          "SCTID:715793003",
          "UMLS:C4275008",
          "icd11.foundation:1452993937"
        ],
        "synonyms": [
          "ACZ-responsive congenital myotonia",
          "ACZ-responsive myotonia",
          "Acetazolamide-responsive congenital myotonia",
          "myotonia-painful contractions syndrome",
          "painful congenital myotonia",
          "painful myotonia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020483"
    }
  ],
  "roots": [
    {
      "id": 16737,
      "label": "myotonic syndrome"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    },
    {
      "id": 25054,
      "label": "SCN4A-related channelopathy"
    }
  ]
}