{
  "id": 15973,
  "label": "nephronophthisis 20",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014997",
  "properties": {
    "xrefs": [
      "DOID:0111127",
      "GARD:0018181",
      "MEDGEN:934607",
      "OMIM:617271",
      "UMLS:C4310640"
    ],
    "synonyms": [
      "MAPKBP1 nephronophthisis (disease)",
      "NPHP20",
      "nephronophthisis (disease) caused by mutation in MAPKBP1",
      "nephronophthisis 20",
      "nephronophthisis type 20"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18920,
      "label": "nephronophthisis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12712",
          "GARD:0000206",
          "HP:0000090",
          "MEDGEN:146912",
          "NANDO:1201036",
          "NANDO:2100015",
          "NANDO:2200140",
          "NANDO:2200170",
          "NCIT:C123200",
          "OMIMPS:256100",
          "Orphanet:655",
          "UMLS:C0687120",
          "icd11.foundation:158151813"
        ],
        "synonyms": [
          "medullary cystic kidney",
          "nephronophthisis",
          "nephronophthisis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure."
      },
      "child_count": 36,
      "reference_id": "MONDO:0019005"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18920,
      "label": "nephronophthisis"
    }
  ]
}