{
  "id": 16737,
  "label": "myotonic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016120",
  "properties": {
    "xrefs": [
      "GARD:0020372",
      "MEDGEN:107510",
      "MESH:D020967",
      "MedDRA:10028658",
      "Orphanet:206970",
      "UMLS:C0553604"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19743,
      "label": "skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:735900",
          "MedDRA:10028641",
          "Orphanet:98472",
          "SCTID:75047002",
          "UMLS:C1533847"
        ],
        "synonyms": [
          "disease of skeletal muscle tissue",
          "disease or disorder of skeletal muscle tissue",
          "disorder of skeletal muscle tissue",
          "skeletal muscle tissue disease",
          "skeletal muscle tissue disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal muscle tissue."
      },
      "child_count": 13,
      "reference_id": "MONDO:0020120"
    }
  ],
  "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": 16733,
      "label": "myotonic dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:450",
          "GARD:0010419",
          "ICD10CM:G71.11",
          "ICD9:359.2",
          "MEDGEN:10239",
          "MESH:D009223",
          "MedDRA:10068871",
          "NANDO:1200495",
          "NANDO:2200864",
          "NCIT:C84914",
          "OMIMPS:160900",
          "Orphanet:206647",
          "SCTID:240104008",
          "UMLS:C0027126",
          "icd11.foundation:192087511"
        ],
        "synonyms": [
          "inherited myotonic dystrophy",
          "myotonia atrophica",
          "myotonia dystrophica",
          "myotonic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016107"
    },
    {
      "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"
    },
    {
      "id": 23657,
      "label": "nondystrophic myotonia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009852",
          "MEDGEN:419721",
          "MESH:C536245",
          "UMLS:C2931139"
        ],
        "synonyms": [
          "NDM"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054869"
    },
    {
      "id": 24933,
      "label": "laryngospasm, severe neonatal episodic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026508",
          "MEDGEN:460867",
          "UMLS:C3149517"
        ],
        "synonyms": [
          "SNEL"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800339"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19743,
      "label": "skeletal muscle disorder"
    }
  ]
}