{
  "id": 11194,
  "label": "autosomal recessive Robinow syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009999",
  "properties": {
    "xrefs": [
      "DOID:0060764",
      "GARD:0016568",
      "MEDGEN:1770070",
      "MESH:C535863",
      "OMIM:268310",
      "Orphanet:1507",
      "UMLS:C5399974",
      "icd11.foundation:793292660"
    ],
    "synonyms": [
      "COVESDEM syndrome",
      "RRS",
      "Robinow syndrome, autosomal recessive",
      "costovertebral segmentation defect-mesomelia syndrome",
      "Covesdem syndrome",
      "Covesdem syndrome, formerly",
      "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly",
      "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals",
      "costovertebral segmentation defect with mesomelia",
      "costovertebral segmentation defect with mesomelia, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19689,
      "label": "Robinow syndrome"
    }
  ]
}