{
  "id": 13468,
  "label": "heart-hand syndrome, Slovenian type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012417",
  "properties": {
    "xrefs": [
      "GARD:0009846",
      "MEDGEN:341859",
      "MESH:C535852",
      "OMIM:610140",
      "Orphanet:168796",
      "SCTID:721014007",
      "UMLS:C1857829",
      "icd11.foundation:1814304618"
    ],
    "synonyms": [
      "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome",
      "atriodigital dysplasia, Slovenian type",
      "heart-hand syndrome, Slovenian type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020573",
          "MEDGEN:1853290",
          "Orphanet:228184",
          "UMLS:C5848054"
        ],
        "synonyms": [
          "atriodigital dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies."
      },
      "child_count": 24,
      "reference_id": "MONDO:0016432"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome"
    }
  ]
}