{
  "id": 12386,
  "label": "myotonic dystrophy type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011266",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16733,
      "label": "myotonic dystrophy"
    }
  ]
}