{
  "id": 25054,
  "label": "SCN4A-related channelopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800468",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19001,
      "label": "muscular channelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018917",
          "MEDGEN:1842600",
          "Orphanet:71864",
          "UMLS:C5681306"
        ],
        "synonyms": [
          "channelopathy of muscle tissue",
          "muscle tissue channelopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A channelopathy that involves the muscle tissue."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019119"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [
    {
      "id": 9504,
      "label": "paramyotonia congenita of Von Eulenburg",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16737,
        24618,
        25054
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008195"
    },
    {
      "id": 9531,
      "label": "hyperkalemic periodic paralysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        25054
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14451",
          "GARD:0000195",
          "MEDGEN:68665",
          "MESH:D020513",
          "NANDO:1200504",
          "NCIT:C123429",
          "OMIM:170500",
          "Orphanet:682",
          "SCTID:304737009",
          "UMLS:C0238357",
          "icd11.foundation:1308452752"
        ],
        "synonyms": [
          "Gamstorp disease",
          "Gamstorp episodic adynamy",
          "HYPP",
          "adynamia episodica hereditaria",
          "adynamia episodica hereditaria with or without myotonia",
          "familial hyperPP",
          "familial hyperkalemic periodic paralysis",
          "familial hyperkalemic periodic paralysis (disorder) [ambiguous]",
          "hyperKPP",
          "hyperPP",
          "hyperkalemic PP",
          "hyperkalemic periodic paralysis",
          "hyperkalemic periodic paralysis, type 2",
          "normokalemic periodic paralysis, potassium-sensitive",
          "primary hyperPP",
          "primary hyperkalemic periodic paralysis",
          "sodium channel muscle disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008224"
    },
    {
      "id": 14270,
      "label": "hypokalemic periodic paralysis, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9530,
        25054
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015649",
          "MEDGEN:413748",
          "MESH:C567635",
          "OMIM:613345",
          "UMLS:C2750061"
        ],
        "synonyms": [
          "hypokalemic periodic paralysis, type 2",
          "HOKPP2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013234"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19001,
      "label": "muscular channelopathy"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}