{
  "id": 14337,
  "label": "nephronophthisis 11",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013302",
  "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."
  },
  "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"
    },
    {
      "id": 19224,
      "label": "Senior-Boichis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016730",
          "MEDGEN:902988",
          "Orphanet:84081",
          "SCTID:717187000",
          "UMLS:C4274018"
        ],
        "synonyms": [
          "Boichis disease",
          "nephronophthisis-hepatic fibrosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child."
      },
      "child_count": 1,
      "reference_id": "MONDO:0019394"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18920,
      "label": "nephronophthisis"
    },
    {
      "id": 19224,
      "label": "Senior-Boichis syndrome"
    }
  ]
}