{
  "id": 14929,
  "label": "nephronophthisis 15",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013917",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18059,
      "label": "Senior-Loken syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000,
        7611,
        16626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050576",
          "GARD:0000322",
          "MEDGEN:96045",
          "MESH:C537580",
          "NANDO:1201049",
          "NCIT:C168588",
          "OMIMPS:266900",
          "Orphanet:3156",
          "UMLS:C0403553",
          "icd11.foundation:1975732692"
        ],
        "synonyms": [
          "SLSN",
          "nephronophthisis with retinal dystrophy",
          "renal dysplasia-retinal aplasia syndrome",
          "Senior Loken syndrome",
          "renal dysplasia retinal aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."
      },
      "child_count": 27,
      "reference_id": "MONDO:0017842"
    },
    {
      "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": 24718,
      "label": "CEP164-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028018"
        ],
        "synonyms": [
          "ciliopathy-CEP164"
        ],
        "definition": "Any ciliopathy caused by variants in the CEP164 gene. This disease is characterized by a broad range of phenotypes including various combinations of nephronophthisis, respiratory system impact, retinal degeneration, developmental delay, CNS malformations, polydactyly, bronchiectasis and obesity."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700344"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18059,
      "label": "Senior-Loken syndrome"
    },
    {
      "id": 18920,
      "label": "nephronophthisis"
    },
    {
      "id": 24718,
      "label": "CEP164-related ciliopathy"
    }
  ]
}