{
  "id": 9027,
  "label": "renal cysts and diabetes syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007669",
  "properties": {
    "xrefs": [
      "DECIPHER:47",
      "DOID:0111101",
      "GARD:0010221",
      "MEDGEN:96569",
      "MESH:C535520",
      "NANDO:2201073",
      "NCIT:C123018",
      "OMIM:137920",
      "Orphanet:93111",
      "SCTID:446641003",
      "UMLS:C0431693"
    ],
    "synonyms": [
      "CAKUT with diabetes",
      "HNF1B-MODY",
      "HNF1B-related renal cysts and diabetes syndrome",
      "MODY5",
      "RCAD",
      "RCAD syndrome",
      "congenital anomalies of the kidney and urinary tract with diabetes",
      "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes",
      "maturity onset diabetes of the Young, type 5",
      "renal cysts and diabetes syndrome",
      "renal cysts-maturity-onset diabetes of the young syndrome",
      "renal dysfunction-early-onset diabetes syndrome",
      "FJHN atypical",
      "FJHN, atypical",
      "MODY type 5",
      "glomerulocystic kidney disease, hypoplastic type",
      "glomerulocystic kidney, familial hypoplastic",
      "hyperuricemic nephropathy, familial juvenile, atypical",
      "maturity-onset diabetes of the Young, type 5",
      "maturity-onset diabetes of the young type 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18838,
      "label": "maturity-onset diabetes of the young",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16627,
        17928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050524",
          "GARD:0003697",
          "HP:0004904",
          "MEDGEN:87433",
          "MESH:C562772",
          "NANDO:2200462",
          "NCIT:C114769",
          "OMIM:606391",
          "OMIMPS:125850",
          "Orphanet:552",
          "SCTID:609561005",
          "UMLS:C0342276"
        ],
        "synonyms": [
          "MODY",
          "maturity onset diabetes of the young",
          "maturity-onset diabetes of the young",
          "maturity-onset diabetes of the young (disease)",
          "Mason type diabetes"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."
      },
      "child_count": 30,
      "reference_id": "MONDO:0018911"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18838,
      "label": "maturity-onset diabetes of the young"
    }
  ]
}