{
  "id": 9531,
  "label": "hyperkalemic periodic paralysis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008224",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3261,
      "label": "familial periodic paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6470,
        16738,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1029",
          "GARD:0021613",
          "MEDGEN:18291",
          "MESH:D010245",
          "NANDO:1200502",
          "NCIT:C84709",
          "Orphanet:371433",
          "SCTID:267607008",
          "UMLS:C0030443"
        ],
        "synonyms": [
          "familial periodic paralysis",
          "hereditary periodic paralysis (disease)",
          "familial periodic paralyses",
          "familial periodic paralyzes",
          "genetic periodic paralysis",
          "normokalemic periodic paralyses",
          "normokalemic periodic paralysis",
          "normokalemic periodic paralyzes",
          "paralysis, familial periodic",
          "paralysis, normokalemic periodic",
          "paralyzes, normokalemic periodic",
          "periodic paralysis, familial",
          "periodic paralysis, normokalemic",
          "periodic paralyzes, familial",
          "periodic paralyzes, normokalemic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally."
      },
      "child_count": 18,
      "reference_id": "MONDO:0000995"
    },
    {
      "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": 3261,
      "label": "familial periodic paralysis"
    },
    {
      "id": 25054,
      "label": "SCN4A-related channelopathy"
    }
  ]
}