{
  "id": 9529,
  "label": "Andersen-Tawil syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008222",
  "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."
  },
  "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": 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": 19046,
      "label": "familial long QT syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4527,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016547",
          "MEDGEN:685787",
          "MedDRA:10057926",
          "NANDO:2200228",
          "NORD:1675",
          "OMIMPS:192500",
          "Orphanet:101016",
          "Orphanet:768",
          "SCTID:442917000",
          "UMLS:C1141890",
          "icd11.foundation:1208831985"
        ],
        "synonyms": [
          "LQTS",
          "Long QT Syndrome",
          "Romano-Ward long QT syndrome",
          "Romano-Ward syndrome",
          "Ward-Romano syndrome",
          "congenital long QT syndrome",
          "familial long QT syndrome",
          "hereditary long QT syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias."
      },
      "child_count": 38,
      "reference_id": "MONDO:0019171"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 3261,
      "label": "familial periodic paralysis"
    },
    {
      "id": 19001,
      "label": "muscular channelopathy"
    },
    {
      "id": 19046,
      "label": "familial long QT syndrome"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}