{
  "id": 22816,
  "label": "atypical hemolytic uremic syndrome with complement gene abnormality",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035290",
  "properties": {
    "xrefs": [
      "GARD:0017986",
      "ICD10CM:D58.8",
      "MEDGEN:1842625",
      "Orphanet:544472",
      "UMLS:C5680166"
    ],
    "synonyms": [
      "Atypical HUS with complement gene abnormality",
      "aHUS with complement gene abnormality"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16818,
      "label": "atypical hemolytic-uremic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5701,
        19495,
        25595
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080301",
          "GARD:0008702",
          "MEDGEN:444141",
          "MESH:D065766",
          "NANDO:1200473",
          "NANDO:1200474",
          "NANDO:2200131",
          "NANDO:2200641",
          "NCIT:C123223",
          "NORD:822",
          "Orphanet:2134",
          "UMLS:C2931788"
        ],
        "synonyms": [
          "Atypical Hemolytic Uremic Syndrome",
          "D-HUS",
          "aHUS",
          "atypical HUS",
          "atypical hemolytic uremic syndrome",
          "hemolytic-uremic syndrome without diarrhea",
          "hemolytic-uremic syndrome without diarrhoea",
          "non-diarrhea-associated hemolytic uremic syndrome",
          "D-minus hemolytic uremic syndrome (D-HUS)",
          "HUS, atypical"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016244"
    }
  ],
  "children": [
    {
      "id": 14078,
      "label": "atypical hemolytic-uremic syndrome with MCP/CD46 anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22816
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018552",
          "MEDGEN:414167",
          "NANDO:2200803",
          "OMIM:612922",
          "Orphanet:93576",
          "UMLS:C2752040"
        ],
        "synonyms": [
          "D-HUS with MCP/CD46 anomaly",
          "aHUS with MCP/CD46 anomaly",
          "atypical HUS with MCP/CD46 anomaly",
          "hemolytic uremic syndrome, atypical, susceptibility to, type 2",
          "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly",
          "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly",
          "AHUS, susceptibility to, 2",
          "AHUS2",
          "aHUS2",
          "hemolytic uremic syndrome, atypical, susceptibility to, 2",
          "susceptibility to atypical hemolytic uremic syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013040"
    },
    {
      "id": 14079,
      "label": "atypical hemolytic-uremic syndrome with I factor anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22816
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018553",
          "MEDGEN:414542",
          "OMIM:612923",
          "Orphanet:93580",
          "UMLS:C2752039"
        ],
        "synonyms": [
          "D-HUS with I factor anomaly",
          "aHUS with I factor anomaly",
          "atypical HUS with I factor anomaly",
          "hemolytic uremic syndrome, atypical, susceptibility to, type 3",
          "hemolytic-uremic syndrome without diarrhea with I factor anomaly",
          "hemolytic-uremic syndrome without diarrhoea with I factor anomaly",
          "AHUS3",
          "aHUS, susceptibility to, 3",
          "aHUS3",
          "hemolytic uremic syndrome, atypical, susceptibility to, 3",
          "susceptibility to atypical hemolytic uremic syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013041"
    },
    {
      "id": 14080,
      "label": "atypical hemolytic-uremic syndrome with B factor anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22816
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018554",
          "MEDGEN:416691",
          "OMIM:612924",
          "Orphanet:93578",
          "UMLS:C2752038"
        ],
        "synonyms": [
          "D-HUS with B factor anomaly",
          "aHUS with B factor anomaly",
          "atypical HUS with B factor anomaly",
          "hemolytic uremic syndrome, atypical, susceptibility to, type 4",
          "hemolytic-uremic syndrome without diarrhea with B factor anomaly",
          "hemolytic-uremic syndrome without diarrhoea with B factor anomaly",
          "AHUS4",
          "aHUS, susceptibility to, 4",
          "aHUS4",
          "hemolytic uremic syndrome, atypical, susceptibility to, 4",
          "susceptibility to atypical hemolytic uremic syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013042"
    },
    {
      "id": 14081,
      "label": "atypical hemolytic-uremic syndrome with C3 anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22816
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018555",
          "MEDGEN:442875",
          "OMIM:612925",
          "Orphanet:93575",
          "UMLS:C2752037"
        ],
        "synonyms": [
          "D-HUS with C3 anomaly",
          "aHUS with C3 anomaly",
          "atypical HUS with C3 anomaly",
          "hemolytic uremic syndrome with DGKE deficiency",
          "hemolytic uremic syndrome, atypical, susceptibility to, type 5",
          "hemolytic-uremic syndrome without diarrhea with C3 anomaly",
          "hemolytic-uremic syndrome without diarrhoea with C3 anomaly",
          "AHUS5",
          "Ahus, susceptibility to, 5",
          "hemolytic uremic syndrome, atypical, susceptibility to, 5",
          "susceptibility to atypical hemolytic uremic syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013043"
    },
    {
      "id": 14082,
      "label": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22816
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018556",
          "MEDGEN:414541",
          "OMIM:612926",
          "Orphanet:217023",
          "UMLS:C2752036"
        ],
        "synonyms": [
          "D-HUS with thrombomodulin anomaly",
          "aHUS with thrombomodulin anomaly",
          "atypical HUS with thrombomodulin anomaly",
          "hemolytic uremic syndrome, atypical, susceptibility to, type 6",
          "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly",
          "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly",
          "AHUS6",
          "Ahus, susceptibility to, 6",
          "hemolytic uremic syndrome, atypical, susceptibility to, 6",
          "susceptibility to atypical hemolytic uremic syndrome 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013044"
    }
  ],
  "roots": [
    {
      "id": 16818,
      "label": "atypical hemolytic-uremic syndrome"
    }
  ]
}