{
  "id": 9379,
  "label": "myotonic dystrophy type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008056",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [
    {
      "id": 22876,
      "label": "congenital-onset Steinert myotonic dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022361",
          "ICD10CM:G71.1",
          "Orphanet:589821"
        ],
        "synonyms": [
          "Congenital-onset Steinert disease",
          "Congenital-onset myotonic dystrophy type 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0035646"
    }
  ],
  "roots": [
    {
      "id": 16733,
      "label": "myotonic dystrophy"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}