{
  "id": 15589,
  "label": "autosomal dominant Robinow syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014591",
  "properties": {
    "xrefs": [
      "DOID:0060765",
      "GARD:0018548",
      "MEDGEN:897039",
      "OMIM:616331",
      "UMLS:C4225363"
    ],
    "synonyms": [
      "DRS2",
      "DVL1 autosomal dominant Robinow syndrome",
      "Robinow syndrome, autosomal dominant type 2",
      "autosomal dominant Robinow syndrome caused by mutation in DVL1",
      "autosomal dominant Robinow syndrome type 2",
      "Robinow syndrome, autosomal dominant 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9688,
      "label": "autosomal dominant Robinow syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19689
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016620",
          "ICD9:759.89",
          "MEDGEN:1675001",
          "Orphanet:3107",
          "SCTID:76520005",
          "UMLS:C5200540",
          "icd11.foundation:807338758"
        ],
        "synonyms": [
          "Robinow syndrome, autosomal dominant",
          "Robinow syndrome, autosomal dominant type",
          "autosomal dominant Robinow syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008389"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9688,
      "label": "autosomal dominant Robinow syndrome"
    }
  ]
}