{
  "id": 18160,
  "label": "humero-radio-ulnar synostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017983",
  "properties": {
    "xrefs": [
      "GARD:0002749",
      "MEDGEN:1656946",
      "Orphanet:3266",
      "UMLS:C4751207",
      "icd11.foundation:1798339866"
    ],
    "synonyms": [
      "humero-radio-ulnar fusion"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 17829,
      "label": "humero-radio-ulnar synostosis, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18160
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295205",
          "icd11.foundation:322904301"
        ],
        "synonyms": [
          "humero-radio-ulnar fusion, unilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017548"
    },
    {
      "id": 17830,
      "label": "humero-radio-ulnar synostosis, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18160
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025112",
          "MEDGEN:1744773",
          "Orphanet:295207",
          "UMLS:C5438978",
          "icd11.foundation:557249772"
        ],
        "synonyms": [
          "humero-radio-ulnar fusion, bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017549"
    }
  ],
  "roots": [
    {
      "id": 3632,
      "label": "synostosis"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}