{
  "id": 9688,
  "label": "autosomal dominant Robinow syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008389",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": [
    {
      "id": 15589,
      "label": "autosomal dominant Robinow syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9688
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014591"
    },
    {
      "id": 15806,
      "label": "autosomal dominant Robinow syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9688
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060767",
          "GARD:0018549",
          "MEDGEN:907878",
          "OMIM:616894",
          "UMLS:C4225164"
        ],
        "synonyms": [
          "DRS3",
          "DVL3 Robinow syndrome",
          "Robinow syndrome caused by mutation in DVL3",
          "Robinow syndrome, autosomal dominant 3",
          "Robinow syndrome, autosomal dominant type 3",
          "autosomal dominant Robinow syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014819"
    },
    {
      "id": 21412,
      "label": "autosomal dominant Robinow syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9688
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024455"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19689,
      "label": "Robinow syndrome"
    }
  ]
}