{
  "id": 24726,
  "label": "ACTC1-related distal arthrogryposis with congenital heart disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700352",
  "properties": {
    "xrefs": [
      "GARD:0028025"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "A distal arthrogryposis caused by variation in the ACTC1 gene. This disease is characterised by multiple congenital contractures, neck pterygia, scoliosis, congenital heart defects, and/or cardiomyopathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7116,
      "label": "congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967,
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1682",
          "EFO:0005207",
          "ICD9:746.84",
          "ICD9:746.89",
          "ICD9:746.9",
          "MEDGEN:57501",
          "MESH:D006330",
          "NCIT:C95834",
          "SCTID:13213009",
          "UMLS:C0152021",
          "icd11.foundation:2004408087"
        ],
        "synonyms": [
          "heart malformation",
          "congenital anomaly of heart",
          "congenital heart defect",
          "congenital heart defects",
          "Abnormality, heart",
          "abnormalities, heart",
          "defect, congenital heart",
          "defects, congenital heart",
          "heart abnormalities",
          "heart abnormality",
          "heart defect, congenital",
          "heart, malformation Of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
      },
      "child_count": 46,
      "reference_id": "MONDO:0005453"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5798,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050646",
          "GARD:0000786",
          "MEDGEN:120512",
          "OMIMPS:108120",
          "Orphanet:97120",
          "SCTID:24269006",
          "UMLS:C0265213",
          "icd11.foundation:1265239690"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet."
      },
      "child_count": 69,
      "reference_id": "MONDO:0019942"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7116,
      "label": "congenital heart disease"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}