{
  "id": 8617,
  "label": "brachydactyly-long thumb syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007212",
  "properties": {
    "xrefs": [
      "GARD:0000968",
      "MEDGEN:350609",
      "MESH:C566204",
      "OMIM:112430",
      "Orphanet:2946",
      "SCTID:733454004",
      "UMLS:C1862169"
    ],
    "synonyms": [
      "brachydactyly, long thumb type",
      "brachydactyly long thumb type",
      "brachydactyly, long-thumb type",
      "long-thumb brachydactyly syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 16946,
      "label": "heart-hand syndrome"
    }
  ]
}