{
  "id": 16733,
  "label": "myotonic dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016107",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    },
    {
      "id": 16737,
      "label": "myotonic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19743
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0016120"
    }
  ],
  "children": [
    {
      "id": 6297,
      "label": "myotonic cataract",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6853,
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:82",
          "GARD:0024036",
          "ICD9:359.29",
          "ICD9:366.43",
          "MEDGEN:44565",
          "NCIT:C34833",
          "SCTID:64741003",
          "UMLS:C0027128",
          "icd11.foundation:1723425593"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A cataract occurring as a sequela of myotonic dystrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0004495"
    },
    {
      "id": 9379,
      "label": "myotonic dystrophy type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16733,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11722",
          "GARD:0008310",
          "ICD9:359.21",
          "MEDGEN:886881",
          "NCIT:C84679",
          "NORD:1075",
          "OMIM:160900",
          "Orphanet:273",
          "UMLS:C3250443",
          "icd11.foundation:557405480"
        ],
        "synonyms": [
          "DM1",
          "DMPK myotonic dystrophy",
          "MD1",
          "Myotonic Dystrophy",
          "Steinert disease",
          "Steinert myotonic dystrophy syndrome",
          "Steinert syndrome",
          "dystrophia myotonica",
          "myotonic dystrophy caused by mutation in DMPK",
          "myotonic dystrophy type 1",
          "Steinert myotonic dystrophy",
          "Steinert's disease",
          "dystrophia myotonica 1",
          "dystrophia myotonica type 1",
          "myotonic dystrophy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008056"
    },
    {
      "id": 12386,
      "label": "myotonic dystrophy type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050759",
          "GARD:0009728",
          "ICD9:359.2",
          "MEDGEN:419137",
          "NCIT:C84680",
          "OMIM:602668",
          "Orphanet:606",
          "UMLS:C2931689",
          "icd11.foundation:1005849639"
        ],
        "synonyms": [
          "CNBP myotonic dystrophy",
          "myotonic dystrophy caused by mutation in CNBP",
          "myotonic dystrophy type 2",
          "proximal myotonic dystrophy",
          "proximal myotonic myopathy",
          "ricker disease",
          "ricker syndrome",
          "DM2",
          "PROMM",
          "dystrophia myotonica 2",
          "dystrophia myotonica type 2",
          "myotonic dystrophy 2",
          "myotonic myopathy, proximal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011266"
    },
    {
      "id": 21243,
      "label": "congenital myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009134",
          "MEDGEN:98051",
          "NCIT:C123308",
          "UMLS:C0410226",
          "icd11.foundation:599230687"
        ],
        "synonyms": [
          "congenital myotonic dystrophy",
          "Congenital Myotonic dystrophies",
          "Congenital Myotonic dystrophy",
          "Congenital myotonic dystrophy",
          "MYOTONIC dystrophy CONGEN",
          "Myotonic dystrophies, Congenital",
          "Myotonic dystrophy, Congenital",
          "dystrophies, Congenital Myotonic",
          "dystrophy, Congenital Myotonic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myotonic dystrophy that is present at birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023595"
    },
    {
      "id": 22877,
      "label": "childhood-onset Steinert myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022362",
          "ICD10CM:G71.1",
          "MEDGEN:1842487",
          "Orphanet:589824",
          "UMLS:C5680307"
        ],
        "synonyms": [
          "Childhood-onset Steinert disease",
          "Childhood-onset myotonic dystrophy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035647"
    },
    {
      "id": 22878,
      "label": "juvenile-onset Steinert myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022363",
          "ICD10CM:G71.1",
          "MEDGEN:1843227",
          "Orphanet:589827",
          "UMLS:C5680306"
        ],
        "synonyms": [
          "Juvenile-onset Steinert disease",
          "Juvenile-onset myotonic dystrophy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035648"
    },
    {
      "id": 22879,
      "label": "adult-onset Steinert myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022364",
          "ICD10CM:G71.1",
          "MEDGEN:1843180",
          "Orphanet:589830",
          "UMLS:C5680309"
        ],
        "synonyms": [
          "Adult-onset Steinert disease",
          "Adult-onset myotonic dystrophy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035649"
    },
    {
      "id": 22880,
      "label": "late-onset Steinert myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022365",
          "ICD10CM:G71.1",
          "MEDGEN:1842603",
          "Orphanet:589833",
          "UMLS:C5680308"
        ],
        "synonyms": [
          "Late-onset Steinert disease",
          "Late-onset myotonic dystrophy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035650"
    }
  ],
  "roots": [
    {
      "id": 16732,
      "label": "progressive muscular dystrophy"
    },
    {
      "id": 16737,
      "label": "myotonic syndrome"
    }
  ]
}