{
  "id": 16406,
  "label": "Dent disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015612",
  "properties": {
    "xrefs": [
      "DOID:0050699",
      "GARD:0013105",
      "MEDGEN:168056",
      "MESH:D057973",
      "MedDRA:10069199",
      "NCIT:C123260",
      "NORD:1040",
      "OMIMPS:300009",
      "Orphanet:1652",
      "SCTID:444645005",
      "UMLS:C0878681",
      "icd11.foundation:1762998355"
    ],
    "synonyms": [
      "Dent syndrome",
      "X-linked recessive hypercalciuric hypophosphatemic rickets",
      "X-linked recessive hypophosphatemic rickets",
      "X-linked recessive nephrolithiasis",
      "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis",
      "renal Fanconi syndrome with nephrocalcinosis and renal stones",
      "Dent disease 1",
      "Dent disease 2",
      "Dents disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 8001,
      "label": "renal tubular transport disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:447",
          "EFO:1000647",
          "MEDGEN:19728",
          "MESH:D015499",
          "UMLS:C0035091"
        ],
        "synonyms": [
          "disorder of renal absorption",
          "renal absorption disease",
          "kidney tubular transport, inborn error",
          "kidney tubular transport, inborn errors",
          "renal tubular transport errors",
          "renal tubular transport, inborn error"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Genetic defects in the selective or non-selective transport functions of the kidney tubules."
      },
      "child_count": 9,
      "reference_id": "MONDO:0006510"
    },
    {
      "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": 11403,
      "label": "Dent disease type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16406
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081453",
          "GARD:0001804",
          "MEDGEN:336322",
          "OMIM:300009",
          "Orphanet:93622",
          "SCTID:717789008",
          "UMLS:C1848336",
          "icd11.foundation:1984074789"
        ],
        "synonyms": [
          "CLCN5 Dent disease",
          "Dent disease caused by mutation in CLCN5",
          "Dent disease type 1",
          "dent disease 1, X-linked recessive",
          "nephrolithiasis type 1",
          "DENT disease 1",
          "nephrolithiasis 2",
          "nephrolithiasis, hypercalciuric, X-linked",
          "urolithiasis, hypercalciuric, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010225"
    },
    {
      "id": 11525,
      "label": "Dent disease type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16406
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081454",
          "GARD:0010645",
          "MEDGEN:336867",
          "MESH:C564487",
          "OMIM:300555",
          "Orphanet:93623",
          "SCTID:717790004",
          "UMLS:C1845167",
          "icd11.foundation:2053330521"
        ],
        "synonyms": [
          "Dent disease caused by mutation in OCRL",
          "Dent disease type 2",
          "OCRL Dent disease",
          "dent disease 2, X-linked recessive",
          "nephrolithiasis type 2",
          "DENT disease 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010359"
    }
  ],
  "roots": [
    {
      "id": 8001,
      "label": "renal tubular transport disease"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    }
  ]
}