{
  "id": 20768,
  "label": "Alsing syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021856",
  "properties": {
    "xrefs": [
      "MEDGEN:444013",
      "MESH:C536588",
      "UMLS:C2931255"
    ],
    "synonyms": [
      "atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    }
  ]
}