{
  "id": 9057,
  "label": "heart-hand syndrome type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007702",
  "properties": {
    "xrefs": [
      "GARD:0002614",
      "MEDGEN:333883",
      "MESH:C535853",
      "OMIM:140450",
      "Orphanet:1342",
      "SCTID:721013001",
      "UMLS:C1841657",
      "icd11.foundation:1878745129"
    ],
    "synonyms": [
      "Cardiomelic syndrome type 3",
      "atriodigital dysplasia type 3",
      "heart-hand syndrome, Spanish type",
      "heart-limb syndrome type 3",
      "brachydactyly and intraventricular conduction defect",
      "upper limb malformations and congenital cardiac anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9084,
      "label": "Holt-Oram syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16089,
        16946,
        19479,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060468",
          "GARD:0006666",
          "ICD9:759.89",
          "MEDGEN:120524",
          "MESH:C535326",
          "MedDRA:10050469",
          "NCIT:C125592",
          "NORD:1248",
          "OMIM:142900",
          "Orphanet:392",
          "SCTID:19092004",
          "UMLS:C0265264",
          "icd11.foundation:1169240278"
        ],
        "synonyms": [
          "atrio digital syndrome",
          "atrio-digital syndrome",
          "atriodigital dysplasia",
          "heart-hand syndrome",
          "HOLT-Oram syndrome",
          "HOS",
          "Holt Oram Syndrome",
          "Holt-Oram syndrome",
          "atriodigital dysplasia type 1",
          "heart-hand syndrome type 1",
          "Cardiac-limb syndrome",
          "HOS 1",
          "Hos1",
          "heart-hand syndrome, type 1",
          "ventriculo-radial syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects."
      },
      "child_count": 5,
      "reference_id": "MONDO:0007732"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9084,
      "label": "Holt-Oram syndrome"
    }
  ]
}