{
  "id": 10180,
  "label": "heart defects-limb shortening syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008917",
  "properties": {
    "xrefs": [
      "GARD:0002613",
      "MEDGEN:349142",
      "MESH:C535850",
      "OMIM:212135",
      "Orphanet:1354",
      "SCTID:721009008",
      "UMLS:C1859327"
    ],
    "synonyms": [
      "heart defect and limb shortening syndrome",
      "cardioskeletal syndrome kuwaiti type",
      "cardioskeletal syndrome, KUWAITI type",
      "heart defects and limb shortening"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}