{
  "id": 21243,
  "label": "congenital myotonic dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023595",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16733,
      "label": "myotonic dystrophy"
    }
  ]
}