{
  "id": 13483,
  "label": "Senior-Loken syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012433",
  "properties": {
    "xrefs": [
      "GARD:0015476",
      "MEDGEN:387907",
      "MESH:C565708",
      "OMIM:610189",
      "UMLS:C1857779"
    ],
    "synonyms": [
      "CEP290 Senior-Loken syndrome",
      "Senior-Loken syndrome 6",
      "Senior-Loken syndrome caused by mutation in CEP290",
      "Senior-Loken syndrome type 6",
      "SENIOR-Loken syndrome 6",
      "SLSN6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 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": 24178,
      "label": "CEP290-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026225"
        ],
        "synonyms": [
          "CEP290 ciliopathy",
          "BBS14",
          "Bardet-Biedl syndrome 14",
          "Bardet-Biedl syndrome type 14",
          "CEP290 Joubert syndrome",
          "CEP290 Leber congenital amaurosis",
          "CEP290 Meckel syndrome",
          "CEP290 Senior-Loken syndrome",
          "JBTS5",
          "Joubert syndrome 5",
          "Joubert syndrome caused by mutation in CEP290",
          "Joubert syndrome type 5",
          "LCA10",
          "Leber congenital amaurosis 10",
          "Leber congenital amaurosis caused by mutation in CEP290",
          "Leber congenital amaurosis type 10",
          "MKS4",
          "Meckel syndrome 4",
          "Meckel syndrome caused by mutation in CEP290",
          "Meckel syndrome, type 4",
          "Meckel-Gruber syndrome, type 4",
          "Meckel-like Cerebrorenodigital syndrome",
          "SENIOR-Loken syndrome 6",
          "SLSN6",
          "Senior-Loken syndrome 6",
          "Senior-Loken syndrome caused by mutation in CEP290",
          "Senior-Loken syndrome type 6",
          "amaurosis congenita of Leber, type 10"
        ],
        "definition": "A ciliopathy caused by biallelic variants in the CEP290 gene."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100451"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18059,
      "label": "Senior-Loken syndrome"
    },
    {
      "id": 24178,
      "label": "CEP290-related ciliopathy"
    }
  ]
}