{
  "id": 8745,
  "label": "renal coloboma syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007352",
  "properties": {
    "xrefs": [
      "DOID:0090006",
      "GARD:0004106",
      "ICD9:759.89",
      "MEDGEN:339002",
      "MESH:C537168",
      "NCIT:C123230",
      "OMIM:120330",
      "Orphanet:1475",
      "SCTID:446449009",
      "UMLS:C1852759"
    ],
    "synonyms": [
      "CAKUT with or without ocular abnormalities",
      "Papillo-renal syndrome",
      "coloboma of optic nerve with renal disease",
      "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities",
      "papillorenal syndrome",
      "renal-coloboma syndrome with macular abnormalities",
      "PAPILLORENAL syndrome",
      "PAPRS",
      "optic coloboma, vesicoureteral reflux, and renal anomalies",
      "optic nerve coloboma with renal disease",
      "renal-coloboma syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}