{
  "id": 10317,
  "label": "cystinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009067",
  "properties": {
    "xrefs": [
      "DOID:9266",
      "GARD:0006237",
      "HP:0003131",
      "ICD10CM:E72.01",
      "MEDGEN:8226",
      "MESH:D003555",
      "MedDRA:10011778",
      "NANDO:2200489",
      "NCIT:C84664",
      "OMIM:220100",
      "Orphanet:214",
      "SCTID:85020001",
      "UMLS:C0010691",
      "icd11.foundation:1237620397"
    ],
    "synonyms": [
      "cystinuria",
      "cystinuria (disease)",
      "cystinuria-lysinuria syndrome",
      "CSNU",
      "cystinuria, type A/B",
      "cystinuria, type B",
      "cystinuria, type I",
      "cystinuria, type I, formerly",
      "cystinuria, type II",
      "cystinuria, type II, formerly",
      "cystinuria, type III",
      "cystinuria, type III, formerly",
      "cystinuria, type a",
      "cystinuria, type non-I",
      "cystinuria, type non-I, formerly",
      "cystinuria-lysinuria"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    }
  ],
  "children": [
    {
      "id": 19501,
      "label": "cystinuria type A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10317
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016827",
          "MEDGEN:347441",
          "MESH:C565652",
          "Orphanet:93612",
          "UMLS:C1857388",
          "icd11.foundation:1172657361"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019745"
    },
    {
      "id": 19502,
      "label": "cystinuria type B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10317
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016828",
          "MEDGEN:347442",
          "Orphanet:93613",
          "UMLS:C1857389",
          "icd11.foundation:491796307"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019746"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    }
  ]
}