{
  "id": 16818,
  "label": "atypical hemolytic-uremic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016244",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 5701,
      "label": "complement deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:626",
          "ICD9:279.8",
          "MEDGEN:82898",
          "NANDO:1200364",
          "NANDO:2200776",
          "NCIT:C4691",
          "Orphanet:459345",
          "SCTID:24743004",
          "UMLS:C0272242"
        ],
        "synonyms": [
          "complement activation disease",
          "complement deficiency",
          "disorder of complement activation",
          "immunodeficiency due to a complement cascade component deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003832"
    },
    {
      "id": 19495,
      "label": "thrombotic microangiopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019227",
          "ICD10CM:M31.1",
          "ICD9:446.6",
          "MEDGEN:403479",
          "MESH:D057049",
          "MedDRA:10043645",
          "NCIT:C62605",
          "Orphanet:93573",
          "SCTID:126729006",
          "UMLS:C2717961"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019737"
    },
    {
      "id": 25595,
      "label": "hereditary hemolytic uremic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3755,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022330",
          "MEDGEN:1825935",
          "OMIMPS:235400",
          "Orphanet:576742",
          "UMLS:C5680355"
        ],
        "synonyms": [
          "genetic hemolytic uremic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0957097"
    }
  ],
  "children": [
    {
      "id": 18303,
      "label": "atypical hemolytic-uremic syndrome with DGKE deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16818
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017543",
          "MEDGEN:1826167",
          "Orphanet:357008",
          "UMLS:C5679921"
        ],
        "synonyms": [
          "AHUS with DGKE deficiency",
          "D-HUS with DGKE deficiency",
          "atypical HUS with DGKE deficiency",
          "hemolytic-uremic syndrome without diarrhea with DGKE deficiency",
          "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency"
        ],
        "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:0018159"
    },
    {
      "id": 19496,
      "label": "atypical hemolytic-uremic syndrome with H factor anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10567,
        16818
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:93579"
        ],
        "synonyms": [
          "D-HUS with H factor anomaly",
          "aHUS with H factor anomaly",
          "atypical HUS with H factor anomaly",
          "hemolytic-uremic syndrome without diarrhea with H factor anomaly",
          "hemolytic-uremic syndrome without diarrhoea with H factor anomaly"
        ],
        "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:0019738"
    },
    {
      "id": 19497,
      "label": "atypical hemolytic-uremic syndrome with anti-factor H antibodies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10567,
        16818
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016823",
          "MEDGEN:1825998",
          "Orphanet:93581",
          "UMLS:C5680286"
        ],
        "synonyms": [
          "D-HUS with anti-factor H antibodies",
          "aHUS with anti-factor H antibodies",
          "atypical HUS with anti-factor H antibodies",
          "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies",
          "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies"
        ],
        "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:0019739"
    },
    {
      "id": 22816,
      "label": "atypical hemolytic uremic syndrome with complement gene abnormality",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16818
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0035290"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5701,
      "label": "complement deficiency"
    },
    {
      "id": 19495,
      "label": "thrombotic microangiopathy"
    },
    {
      "id": 25595,
      "label": "hereditary hemolytic uremic syndrome"
    }
  ]
}