{
  "id": 18920,
  "label": "nephronophthisis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019005",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 18,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    }
  ],
  "children": [
    {
      "id": 10941,
      "label": "nephronophthisis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7000,
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111112",
          "GARD:0018645",
          "MEDGEN:343406",
          "MESH:C537699",
          "NANDO:1201036",
          "NANDO:2200140",
          "NCIT:C74998",
          "OMIM:256100",
          "Orphanet:93592",
          "SCTID:444830001",
          "UMLS:C1855681"
        ],
        "synonyms": [
          "NPH1",
          "NPHP1",
          "NPHP1 nephronophthisis (disease)",
          "familial juvenile nephronophthisis",
          "juvenile nephronophthisis",
          "nephronophthisis (disease) caused by mutation in NPHP1",
          "nephronophthisis 1",
          "nephronophthisis 1, juvenile",
          "nephronophthisis type 1",
          "Nph1",
          "nephronophthisis, familial juvenile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009728"
    },
    {
      "id": 12312,
      "label": "nephronophthisis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111113",
          "GARD:0018182",
          "MEDGEN:355574",
          "MESH:C566582",
          "OMIM:602088",
          "Orphanet:93591",
          "UMLS:C1865872"
        ],
        "synonyms": [
          "INVS nephronophthisis (disease)",
          "NPH2",
          "NPHP2",
          "nephronophthisis (disease) caused by mutation in INVS",
          "nephronophthisis 2",
          "nephronophthisis 2, infantile",
          "nephronophthisis type 2",
          "Nph2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011190"
    },
    {
      "id": 12560,
      "label": "nephronophthisis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111114",
          "GARD:0018179",
          "MEDGEN:346809",
          "MESH:C565780",
          "OMIM:604387",
          "UMLS:C1858392"
        ],
        "synonyms": [
          "NPH3",
          "NPHP3",
          "NPHP3 nephronophthisis (disease)",
          "nephronophthisis (disease) caused by mutation in NPHP3",
          "nephronophthisis 3",
          "nephronophthisis type 3",
          "Nph3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011456"
    },
    {
      "id": 12838,
      "label": "nephronophthisis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111115",
          "GARD:0024821",
          "MEDGEN:339667",
          "MESH:C564640",
          "OMIM:606966",
          "SCTID:446989009",
          "UMLS:C1847013"
        ],
        "synonyms": [
          "NPHP4",
          "NPHP4 nephronophthisis (disease)",
          "nephronophthisis (disease) caused by mutation in NPHP4",
          "nephronophthisis 4",
          "nephronophthisis type 4",
          "nephronophthisis 4, juvenile"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011752"
    },
    {
      "id": 13720,
      "label": "nephronophthisis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111116",
          "GARD:0024879",
          "MEDGEN:369409",
          "MESH:C566930",
          "OMIM:611498",
          "UMLS:C1969092"
        ],
        "synonyms": [
          "GLIS2 nephronophthisis (disease)",
          "NPHP7",
          "nephronophthisis (disease) caused by mutation in GLIS2",
          "nephronophthisis 7",
          "nephronophthisis type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012680"
    },
    {
      "id": 14199,
      "label": "nephronophthisis-like nephropathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111117",
          "GARD:0018180",
          "MEDGEN:461769",
          "OMIM:613159",
          "UMLS:C3150419"
        ],
        "synonyms": [
          "NPHP-XPNPEP3",
          "NPHPL1",
          "XPNPEP3 nephronophthisis (disease)",
          "nephronophthisis (disease) caused by mutation in XPNPEP3",
          "nephronophthisis-like nephropathy 1",
          "nephronophthisis-like nephropathy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013163"
    },
    {
      "id": 14337,
      "label": "nephronophthisis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920,
        19224
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111118",
          "GARD:0018080",
          "MEDGEN:462146",
          "OMIM:613550",
          "UMLS:C3150796"
        ],
        "synonyms": [
          "NPHP11",
          "nephronophthisis 11",
          "nephronophthisis type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013302"
    },
    {
      "id": 14474,
      "label": "nephronophthisis 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111119",
          "GARD:0024925",
          "MEDGEN:462536",
          "OMIM:613820",
          "UMLS:C3151186"
        ],
        "synonyms": [
          "NPHP12",
          "TTC21B nephronophthisis (disease)",
          "nephronophthisis (disease) caused by mutation in TTC21B",
          "nephronophthisis 12",
          "nephronophthisis type 12",
          "Joubert syndrome 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013442"
    },
    {
      "id": 14476,
      "label": "nephronophthisis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111120",
          "GARD:0024926",
          "MEDGEN:462538",
          "OMIM:613824",
          "UMLS:C3151188"
        ],
        "synonyms": [
          "NEK8 nephronophthisis (disease)",
          "NPHP9",
          "nephronophthisis (disease) caused by mutation in NEK8",
          "nephronophthisis 9",
          "nephronophthisis type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013444"
    },
    {
      "id": 14739,
      "label": "nephronophthisis 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111121",
          "GARD:0024942",
          "MEDGEN:482242",
          "OMIM:614377",
          "UMLS:C3280612"
        ],
        "synonyms": [
          "NPHP13",
          "nephronophthisis 13",
          "nephronophthisis type 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013718"
    },
    {
      "id": 14928,
      "label": "nephronophthisis 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111122",
          "GARD:0024962",
          "MEDGEN:761313",
          "OMIM:614844",
          "UMLS:C3539071"
        ],
        "synonyms": [
          "NPHP14",
          "ZNF423 nephronophthisis (disease)",
          "nephronophthisis (disease) caused by mutation in ZNF423",
          "nephronophthisis 14",
          "nephronophthisis type 14",
          "Joubert syndrome 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013916"
    },
    {
      "id": 14929,
      "label": "nephronophthisis 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18059,
        18920,
        24718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111123",
          "GARD:0015852",
          "MEDGEN:762112",
          "OMIM:614845",
          "UMLS:C3541853"
        ],
        "synonyms": [
          "CEP164 nephronophthisis (disease)",
          "NPHP15",
          "nephronophthisis (disease) caused by mutation in CEP164",
          "nephronophthisis 15",
          "nephronophthisis type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013917"
    },
    {
      "id": 15165,
      "label": "nephronophthisis 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111124",
          "GARD:0018183",
          "MEDGEN:815650",
          "OMIM:615382",
          "SCTID:444558002",
          "UMLS:C3809320"
        ],
        "synonyms": [
          "ANKS6 nephronophthisis (disease)",
          "NPHP16",
          "nephronophthisis (disease) caused by mutation in ANKS6",
          "nephronophthisis 16",
          "nephronophthisis type 16",
          "autosomal recessive infantile NPHP",
          "autosomal recessive infantile nephronophthisis",
          "infantile nephronophthisis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014158"
    },
    {
      "id": 15376,
      "label": "nephronophthisis 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111125",
          "GARD:0024992",
          "MEDGEN:855697",
          "OMIM:615862",
          "UMLS:C3890591"
        ],
        "synonyms": [
          "CEP83 nephronophthisis (disease)",
          "NPHP18",
          "nephronophthisis (disease) caused by mutation in CEP83",
          "nephronophthisis 18",
          "nephronophthisis type 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014374"
    },
    {
      "id": 15536,
      "label": "nephronophthisis 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111126",
          "GARD:0018081",
          "MEDGEN:863979",
          "OMIM:616217",
          "UMLS:C4015542"
        ],
        "synonyms": [
          "DCDC2 nephronophthisis (disease)",
          "NPHP19",
          "nephronophthisis (disease) caused by mutation in DCDC2",
          "nephronophthisis 19",
          "nephronophthisis type 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014537"
    },
    {
      "id": 15973,
      "label": "nephronophthisis 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014997"
    },
    {
      "id": 19500,
      "label": "late-onset nephronophthisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920,
        19096
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016824",
          "MEDGEN:1842314",
          "Orphanet:93589",
          "UMLS:C5681620"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019742"
    },
    {
      "id": 25319,
      "label": "nephronophthisis-like nephropathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026664",
          "MEDGEN:1794163",
          "OMIM:619468",
          "UMLS:C5561953"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859175"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}