{
  "id": 13404,
  "label": "complement factor H deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012350",
  "properties": {
    "xrefs": [
      "GARD:0018551",
      "ICD9:279.8",
      "MEDGEN:96024",
      "MESH:C562875",
      "NANDO:2200791",
      "OMIM:609814",
      "SCTID:234622003",
      "UMLS:C0398777"
    ],
    "synonyms": [
      "complement factor H deficiency",
      "CFHD",
      "Cfh deficiency",
      "factor H deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7021,
      "label": "hereditary nephritis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3410,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:10305",
          "MESH:D009394",
          "SCTID:399340005",
          "UMLS:C0027706"
        ],
        "synonyms": [
          "hereditary nephritis",
          "familial nephritis",
          "nephritis, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane."
      },
      "child_count": 14,
      "reference_id": "MONDO:0005334"
    },
    {
      "id": 18187,
      "label": "complement 3 glomerulopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18832
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017507",
          "MEDGEN:1672497",
          "Orphanet:329918",
          "UMLS:C4087273"
        ],
        "synonyms": [
          "C3 glomerulopathy",
          "C3G",
          "non-Ig-mediated MPGN",
          "non-Ig-mediated membranoproliferative glomerulonephritis",
          "non-immunoglobulin-mediated MPGN",
          "non-immunoglobulin-mediated membranoproliferative glomerulonephritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A rare primary membranoproliferative glomerulonephritis characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018013"
    }
  ],
  "children": [
    {
      "id": 16694,
      "label": "immunodeficiency with factor H anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13404
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017099",
          "Orphanet:200421",
          "icd11.foundation:946399055"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016061"
    }
  ],
  "roots": [
    {
      "id": 7021,
      "label": "hereditary nephritis"
    },
    {
      "id": 18187,
      "label": "complement 3 glomerulopathy"
    }
  ]
}