{
  "id": 18161,
  "label": "congenital radioulnar synostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017985",
  "properties": {
    "xrefs": [
      "DOID:9827",
      "GARD:0010876",
      "HP:0002974",
      "ICD9:755.53",
      "MEDGEN:57861",
      "MESH:C562408",
      "Orphanet:3269",
      "SCTID:33313004",
      "UMLS:C0158761",
      "icd11.foundation:1098526181"
    ],
    "synonyms": [
      "radioulnar fusion",
      "radioulnar synostosis",
      "radioulnar synostosis (disease)",
      "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius",
      "radial-ulnar synostosis",
      "radio-ulnar synostosis",
      "radio-ulnar synostosis type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3632,
      "label": "synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11971",
          "GARD:0022939",
          "MEDGEN:11689",
          "MESH:D013580",
          "UMLS:C0039093"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue."
      },
      "child_count": 11,
      "reference_id": "MONDO:0001411"
    }
  ],
  "children": [
    {
      "id": 11153,
      "label": "radioulnar synostosis-developmental delay-hypotonia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        6982,
        16087,
        18161,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001810",
          "MEDGEN:341460",
          "MESH:C538217",
          "MESH:C564856",
          "OMIM:266255",
          "Orphanet:3270",
          "SCTID:721883006",
          "UMLS:C1849470"
        ],
        "synonyms": [
          "Der Kaloustian-McIntosh-Silver syndrome",
          "radioulnar synostosis with developmental delay and hypotonia syndrome",
          "der Kaloustian mcintosh silver syndrome",
          "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia",
          "radioulnar synostosis, unilateral, with developmental retardation and hypotonia",
          "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance",
          "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance",
          "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance",
          "unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009952"
    },
    {
      "id": 17835,
      "label": "radio-ulnar synostosis, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021221",
          "Orphanet:295217",
          "icd11.foundation:2026644976"
        ],
        "synonyms": [
          "radio-ulnar fusion, unilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017554"
    },
    {
      "id": 17836,
      "label": "radio-ulnar synostosis, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18161
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021222",
          "Orphanet:295219",
          "icd11.foundation:1515190165"
        ],
        "synonyms": [
          "radio-ulnar fusion, bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017555"
    }
  ],
  "roots": [
    {
      "id": 3632,
      "label": "synostosis"
    }
  ]
}