{
  "id": 21412,
  "label": "autosomal dominant Robinow syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024455",
  "properties": {
    "xrefs": [
      "DOID:0060766",
      "GARD:0002013",
      "MEDGEN:1641736",
      "OMIM:180700",
      "UMLS:C4551475"
    ],
    "synonyms": [
      "DRS1",
      "Robinow syndrome, autosomal dominant 1",
      "WNT5A autosomal dominant Robinow syndrome",
      "autosomal dominant Robinow syndrome caused by mutation in WNT5A",
      "dysostosis acral with facial and genital abnormalities",
      "Robinow dwarfism",
      "acral dysostosis with Facial and genital abnormalities",
      "fetal face syndrome",
      "foetal face syndrome"
    ],
    "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 WNT5A 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"
    }
  ]
}