{
  "id": 22457,
  "label": "robinow syndrome, autosomal recessive 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0032800",
  "properties": {
    "xrefs": [
      "DOID:0060974",
      "GARD:0025750",
      "MEDGEN:1676687",
      "OMIM:618529",
      "UMLS:C5193143"
    ],
    "synonyms": [
      "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2",
      "RRS2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19689,
      "label": "Robinow syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060254",
          "GARD:0000312",
          "MEDGEN:78535",
          "NCIT:C85048",
          "NORD:1673",
          "OMIMPS:268310",
          "Orphanet:97360",
          "UMLS:C0265205",
          "icd11.foundation:1010745722"
        ],
        "synonyms": [
          "Robinow dwarfism",
          "Robinow-Silverman-Smith syndrome",
          "acral dysostosis with facial and genital abnormalities",
          "fetal face syndrome",
          "foetal face syndrome",
          "mesomelic dwarfism-small genitalia syndrome",
          "Covesdem syndrome (formerly)",
          "costovertebral segmentation defect with mesomelia (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019978"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19689,
      "label": "Robinow syndrome"
    }
  ]
}