{
  "id": 9504,
  "label": "paramyotonia congenita of Von Eulenburg",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008195",
  "properties": {
    "xrefs": [
      "DOID:0111538",
      "GARD:0007325",
      "ICD9:359.29",
      "MEDGEN:113142",
      "NANDO:1200501",
      "NCIT:C122790",
      "OMIM:168300",
      "Orphanet:684",
      "SCTID:41574007",
      "UMLS:C0221055",
      "icd11.foundation:1740060527"
    ],
    "synonyms": [
      "paramyotonia congenita",
      "paramyotonia congenita of Von Eulenburg",
      "Eulenburg disease",
      "PMC",
      "Von Eulenburg paramyotonia congenita",
      "myotonia congenita intermittens",
      "paralysis periodica Paramyotonica",
      "paramyotonia congenita of VON Eulenburg",
      "paramyotonia congenita without cold paralysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 16737,
      "label": "myotonic syndrome"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    },
    {
      "id": 25054,
      "label": "SCN4A-related channelopathy"
    }
  ]
}