{
  "id": 19001,
  "label": "muscular channelopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019119",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 18957,
      "label": "neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:440",
          "EFO:1001902",
          "ICD9:358",
          "ICD9:358.9",
          "MEDGEN:10323",
          "MESH:D009468",
          "MedDRA:10029323",
          "NANDO:1100001",
          "NANDO:2100214",
          "Orphanet:68381",
          "UMLS:C0027868"
        ],
        "synonyms": [
          "nerve and muscle disorder",
          "neuromuscular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions"
      },
      "child_count": 8,
      "reference_id": "MONDO:0019056"
    },
    {
      "id": 29384,
      "label": "disease by molecular mechanism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "definition": "A grouping class for human diseases classified by their underlying molecular or pathophysiological mechanism, such as protein aggregation, ion channel dysfunction, or signal transduction disruption."
      },
      "child_count": 5,
      "reference_id": "MONDO:7770011"
    }
  ],
  "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": 9991,
      "label": "Morvan syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001897",
          "GARD:0009766",
          "MEDGEN:1632829",
          "Orphanet:83467",
          "SCTID:763803004",
          "UMLS:C3854373"
        ],
        "synonyms": [
          "Morvan's fibrillary chorea",
          "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008718"
    },
    {
      "id": 10923,
      "label": "Thomsen and Becker disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2106",
          "GARD:0012301",
          "ICD10CM:G71.12",
          "ICD9:359.22",
          "MESH:D009224",
          "MedDRA:10028655",
          "MedDRA:10043461",
          "NANDO:1200497",
          "NANDO:1200498",
          "NCIT:C84912",
          "Orphanet:614",
          "SCTID:726051002"
        ],
        "synonyms": [
          "myotonia congenita",
          "Batten-Turner congenital myopathy",
          "myopathy, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009710"
    },
    {
      "id": 18530,
      "label": "malignant hyperthermia of anesthesia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8545",
          "GARD:0006964",
          "HP:0002047",
          "ICD9:995.86",
          "MEDGEN:9867",
          "MESH:D008305",
          "MedDRA:10020844",
          "NCIT:C84869",
          "Orphanet:423",
          "SCTID:405501007",
          "UMLS:C0024591"
        ],
        "synonyms": [
          "anaesthesia related hyperthermia",
          "hyperthermia of anaesthesia",
          "hyperthermia of anesthesia",
          "malignant hyperpyrexia",
          "malignant hyperpyrexia due to anaesthesia",
          "malignant hyperthermia",
          "malignant hyperthermia of anesthesia",
          "malignant hyperthermia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018493"
    },
    {
      "id": 19229,
      "label": "Isaac syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006793",
          "MEDGEN:116151",
          "NANDO:1200510",
          "Orphanet:84142",
          "SCTID:305719002",
          "UMLS:C0242287",
          "icd11.foundation:646523932"
        ],
        "synonyms": [
          "Isaacs' syndrome",
          "Quantal squander syndrome",
          "acquired neuromyotonia",
          "continuous muscle fiber activity syndrome",
          "continuous muscle fibre activity syndrome",
          "neuromyotonia",
          "peripheral nerve hyperexcitability",
          "Isaac's-Merten's syndrome",
          "Isaac-Mertens syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019399"
    },
    {
      "id": 23892,
      "label": "RYR1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19001,
        19669,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026064",
          "Orphanet:98742"
        ],
        "synonyms": [
          "RYR1-related disease",
          "RYR1-related disorder",
          "RYR1-related myopathy",
          "neurological muscular channelopathy due to a genetic ryanodine receptor defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100150"
    },
    {
      "id": 24173,
      "label": "CNGB3-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026221"
        ],
        "synonyms": [
          "CNGB3 retinopathy",
          "ACHM1",
          "ACHM1 (formerly)",
          "ACHM1, formerly",
          "ACHM3",
          "CNGB3 achromatopsia",
          "RMCH1",
          "RMCH1 (formerly)",
          "Rod monochromacy 1 (formerly)",
          "Rod monochromatism 1 (formerly)",
          "achromatopsia 3",
          "achromatopsia caused by mutation in CNGB3",
          "achromatopsia type 3",
          "achromatopsia with myopia",
          "rod monochromacy 1",
          "rod monochromacy 1, formerly",
          "rod monochromatism 1",
          "rod monochromatism 1, formerly",
          "total colorblindness with myopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A retinopathy caused by biallelic variants in the CNGB3 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100446"
    },
    {
      "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"
    },
    {
      "id": 25596,
      "label": "neurological muscular channelopathy due to a genetic sodium channel defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019563",
          "MEDGEN:1842444",
          "Orphanet:98738",
          "UMLS:C5681681"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957111"
    },
    {
      "id": 25597,
      "label": "neurological muscular channelopathy due to a genetic chloride channel defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019564",
          "MEDGEN:1843259",
          "Orphanet:98739",
          "UMLS:C5681687"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957112"
    },
    {
      "id": 25598,
      "label": "neurological muscular channelopathy due to a genetic calcium channel defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019565",
          "MEDGEN:1842522",
          "Orphanet:98740",
          "UMLS:C5681686"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957113"
    },
    {
      "id": 25599,
      "label": "neurological muscular channelopathy due to a genetic potassium channel defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019566",
          "MEDGEN:1842582",
          "Orphanet:98741",
          "UMLS:C5681685"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957114"
    }
  ],
  "roots": [
    {
      "id": 18957,
      "label": "neuromuscular disease"
    },
    {
      "id": 29384,
      "label": "disease by molecular mechanism"
    }
  ]
}