{
  "id": 3261,
  "label": "familial periodic paralysis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000995",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:896",
          "GARD:0024088",
          "MEDGEN:6325",
          "MESH:D008664",
          "UMLS:C0025534"
        ],
        "synonyms": [
          "metal metabolism disorder",
          "metal metabolism, inborn error"
        ],
        "definition": "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004689"
    },
    {
      "id": 16738,
      "label": "periodic paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020374",
          "HP:0003768",
          "ICD10CM:G72.3",
          "MEDGEN:488958",
          "MedDRA:10016208",
          "Orphanet:206976",
          "UMLS:C1279412",
          "icd11.foundation:577112387"
        ],
        "synonyms": [
          "periodic paralysis",
          "periodic paralysis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016122"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "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 characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9529,
      "label": "Andersen-Tawil syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        19001,
        19046,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050434",
          "GARD:0009453",
          "ICD9:759.89",
          "MEDGEN:327586",
          "MESH:D050030",
          "NANDO:1200827",
          "NCIT:C84559",
          "NORD:1883",
          "OMIM:170390",
          "Orphanet:37553",
          "SCTID:422348008",
          "UMLS:C1563715"
        ],
        "synonyms": [
          "ATS",
          "Andersen cardiodysrhythmic periodic paralysis",
          "Andersen syndrome",
          "Andersen-Tawil syndrome",
          "LQT7",
          "long QT syndrome 7",
          "long QT syndrome type 7",
          "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features",
          "cardiodysrhythmic potassium-sensitive periodic paralysis",
          "periodic paralysis, Potassium-sensitive cardiodysrhythmic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008222"
    },
    {
      "id": 9530,
      "label": "hypokalemic periodic paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3261,
        5013
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14452",
          "GARD:0006729",
          "MEDGEN:116058",
          "MESH:D020514",
          "NANDO:1200503",
          "NCIT:C84775",
          "Orphanet:681",
          "SCTID:82732003",
          "UMLS:C0238358",
          "icd11.foundation:1494773635"
        ],
        "synonyms": [
          "HKPP",
          "HOKPP",
          "HypoPP",
          "Westphall disease",
          "familial periodic paralysis (& [hypokalaemic])",
          "hypokalemic periodic paralysis",
          "periodic paralysis I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008223"
    },
    {
      "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": 9532,
      "label": "normokalemic periodic paralysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004009",
          "MEDGEN:78678",
          "NCIT:C122791",
          "OMIM:170600",
          "Orphanet:680",
          "SCTID:40381009",
          "UMLS:C0268445"
        ],
        "synonyms": [
          "NormoKPP",
          "normokalemic PP",
          "normokalemic periodic paralysis",
          "periodic paralysis type 3",
          "potassium-sensitive normokalemic periodic paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008225"
    },
    {
      "id": 18432,
      "label": "periodic paralysis with later-onset distal motor neuropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261,
        16918,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021634",
          "MEDGEN:1670241",
          "Orphanet:397750",
          "UMLS:C4751573"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018343"
    },
    {
      "id": 19071,
      "label": "thyrotoxic periodic paralysis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010814",
          "MEDGEN:120639",
          "MedDRA:10043788",
          "OMIMPS:188580",
          "Orphanet:79102",
          "SCTID:30967002",
          "UMLS:C0268446",
          "icd11.foundation:1457837313"
        ],
        "synonyms": [
          "thyrotoxic hypokalemic periodic paralysis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019201"
    }
  ],
  "roots": [
    {
      "id": 6470,
      "label": "inborn metal metabolism disorder"
    },
    {
      "id": 16738,
      "label": "periodic paralysis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}