{
  "id": 7046,
  "label": "inherited focal segmental glomerulosclerosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005363",
  "properties": {
    "xrefs": [
      "GARD:0024175",
      "NANDO:1200722",
      "NANDO:2200113",
      "OMIMPS:603278"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ],
    "definition": "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 23932,
      "label": "inherited kidney disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6948
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "genetic renal disease",
          "inherited kidney disease",
          "inherited renal disorder",
          "nephrogenetic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system."
      },
      "child_count": 52,
      "reference_id": "MONDO:0100191"
    },
    {
      "id": 24049,
      "label": "focal segmental glomerulosclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2948
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1312",
          "EFO:0004236",
          "GARD:0006517",
          "ICD9:582.1",
          "MEDGEN:4904",
          "MESH:D005923",
          "NCIT:C37308",
          "SCTID:236403004",
          "UMLS:C0017668"
        ],
        "synonyms": [
          "FGS (focal glomerular sclerosis)",
          "FSGS",
          "FSGS - focal segmental glomerulosclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100313"
    }
  ],
  "children": [
    {
      "id": 7414,
      "label": "HIV-associated nephropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046,
        21516
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0007313",
          "GARD:0024232",
          "MEDGEN:37145",
          "MESH:D016263",
          "NCIT:C26918",
          "UMLS:C0078911"
        ],
        "synonyms": [
          "AIDS-associated nephropathy",
          "AIDS-related nephropathy",
          "HIV nephropathy",
          "HIVAN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0005798"
    },
    {
      "id": 12419,
      "label": "focal segmental glomerulosclerosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046,
        18921
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111128",
          "GARD:0015353",
          "MEDGEN:1636833",
          "MESH:C538457",
          "OMIM:603278",
          "Orphanet:93213",
          "UMLS:C4551527"
        ],
        "synonyms": [
          "ACTN4 focal segmental glomerulosclerosis",
          "FSGS1",
          "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 1",
          "focal segmental glomerulosclerosis caused by mutation in ACTN4",
          "focal segmental glomerulosclerosis type 1",
          "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis",
          "glomerulosclerosis, focal segmental, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011303"
    },
    {
      "id": 12496,
      "label": "focal segmental glomerulosclerosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111129",
          "GARD:0015362",
          "MEDGEN:349053",
          "MESH:C565831",
          "OMIM:603965",
          "UMLS:C1858915"
        ],
        "synonyms": [
          "FSGS2",
          "TRPC6 focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 2",
          "focal segmental glomerulosclerosis caused by mutation in TRPC6",
          "focal segmental glomerulosclerosis type 2",
          "glomerulosclerosis, focal segmental, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011390"
    },
    {
      "id": 14227,
      "label": "focal segmental glomerulosclerosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111130",
          "GARD:0015636",
          "MEDGEN:413315",
          "MESH:C567687",
          "OMIM:613237",
          "UMLS:C2750475"
        ],
        "synonyms": [
          "FSGS5",
          "INF2 focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 5",
          "focal segmental glomerulosclerosis caused by mutation in INF2",
          "focal segmental glomerulosclerosis type 5",
          "glomerulosclerosis, focal segmental, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013191"
    },
    {
      "id": 14616,
      "label": "focal segmental glomerulosclerosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111131",
          "GARD:0015761",
          "MEDGEN:481535",
          "OMIM:614131",
          "UMLS:C3279905"
        ],
        "synonyms": [
          "FSGS6",
          "MYO1E focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 6",
          "focal segmental glomerulosclerosis caused by mutation in MYO1E",
          "focal segmental glomerulosclerosis type 6",
          "glomerulosclerosis, focal segmental, 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013589"
    },
    {
      "id": 15451,
      "label": "focal segmental glomerulosclerosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111132",
          "GARD:0016045",
          "MEDGEN:863362",
          "OMIM:616002",
          "UMLS:C4014925"
        ],
        "synonyms": [
          "FSGS7",
          "PAX2 focal segmental glomerulosclerosis",
          "focal segmental glomerulosclerosis 7",
          "focal segmental glomerulosclerosis caused by mutation in PAX2",
          "focal segmental glomerulosclerosis type 7",
          "glomerulosclerosis, focal segmental, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014451"
    },
    {
      "id": 15462,
      "label": "focal segmental glomerulosclerosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111133",
          "GARD:0016051",
          "MEDGEN:863430",
          "OMIM:616032",
          "UMLS:C4014993"
        ],
        "synonyms": [
          "ANLN focal segmental glomerulosclerosis",
          "FSGS8",
          "focal segmental glomerulosclerosis 8",
          "focal segmental glomerulosclerosis caused by mutation in ANLN",
          "focal segmental glomerulosclerosis type 8",
          "glomerulosclerosis, focal segmental, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014462"
    },
    {
      "id": 15538,
      "label": "focal segmental glomerulosclerosis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111134",
          "GARD:0016070",
          "MEDGEN:863992",
          "OMIM:616220",
          "UMLS:C4015555"
        ],
        "synonyms": [
          "CRB2 focal segmental glomerulosclerosis",
          "FSGS9",
          "focal segmental glomerulosclerosis 9",
          "focal segmental glomerulosclerosis caused by mutation in CRB2",
          "focal segmental glomerulosclerosis type 9",
          "glomerulosclerosis, focal segmental, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014539"
    }
  ],
  "roots": [
    {
      "id": 23932,
      "label": "inherited kidney disorder"
    },
    {
      "id": 24049,
      "label": "focal segmental glomerulosclerosis"
    }
  ]
}