{
  "id": 16940,
  "label": "progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016424",
  "properties": {
    "xrefs": [
      "GARD:0017145",
      "MEDGEN:930500",
      "Orphanet:228012",
      "UMLS:C4304831"
    ],
    "synonyms": [
      "progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome",
      "progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome",
      "progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6777,
      "label": "hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11984",
          "EFO:0000538",
          "HP:0001639",
          "ICD10CM:I42.1",
          "ICD10CM:I42.2",
          "ICD9:425.1",
          "ICD9:425.11",
          "ICD9:425.4",
          "MEDGEN:2881",
          "MESH:D002312",
          "MedDRA:10020871",
          "NANDO:1200286",
          "NANDO:1200288",
          "NANDO:2100054",
          "NANDO:2200229",
          "NANDO:2201042",
          "NCIT:C34449",
          "Orphanet:217569",
          "SCTID:233873004",
          "UMLS:C0007194",
          "icd11.foundation:1830681485"
        ],
        "synonyms": [
          "hypertrophic cardiomyopathy",
          "hypertrophic subaortic stenosis",
          "obstructive hypertrophic cardiomyopathy",
          "familial hypertrophic cardiomyopathy",
          "HCM - hypertrophic cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005045"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6777,
      "label": "hypertrophic cardiomyopathy"
    }
  ]
}