{
  "id": 19224,
  "label": "Senior-Boichis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019394",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 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"
    }
  ],
  "roots": [
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}