{
  "id": 12489,
  "label": "sickle cell disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011382",
  "properties": {
    "xrefs": [
      "DOID:0081445",
      "DOID:10923",
      "GARD:0008614",
      "ICD10CM:D57.2",
      "ICD9:282.6",
      "ICD9:282.60",
      "ICD9:282.63",
      "MEDGEN:287",
      "MESH:D000755",
      "MedDRA:10040641",
      "NANDO:2200624",
      "NCIT:C34383",
      "NORD:1714",
      "OMIM:603903",
      "Orphanet:232",
      "UMLS:C0002895"
    ],
    "synonyms": [
      "Haemoglobin S disease without crisis",
      "Hb-S/Hb-C disease",
      "Sickle Cell Disease",
      "sickle cell anemia",
      "sickle cell disease",
      "sickle-cell/Hb-C disease without crisis",
      "sickling disorder due to Haemoglobin S",
      "sickling disorder due to Hemoglobin S",
      "HPA 1 recognition polymorphism, beta-globin-related",
      "HPA1",
      "Haemoglobin S disease",
      "HbS disease",
      "Hemoglobin S disease",
      "restriction fragment length polymorphism, sickle cell Anemia-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        23348
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2860",
          "GARD:0018883",
          "ICD9:282.7",
          "MESH:D006453",
          "MedDRA:10060892",
          "NCIT:C3092",
          "Orphanet:68364",
          "SCTID:427306008"
        ],
        "synonyms": [
          "Hemoglobinopathies / iron metabolism",
          "hereditary hemoglobinopathy",
          "hemoglobinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule."
      },
      "child_count": 34,
      "reference_id": "MONDO:0019050"
    }
  ],
  "children": [
    {
      "id": 17136,
      "label": "sickle cell-hemoglobin c disease syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        12489
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006584",
          "MEDGEN:5496",
          "MedDRA:10057072",
          "Orphanet:251365",
          "UMLS:C0019034"
        ],
        "synonyms": [
          "HbSC disease",
          "sickle cell - haemoglobin C disease",
          "sickle cell - hemoglobin C disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016669"
    },
    {
      "id": 26302,
      "label": "sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12489
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700085"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0979354"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18953,
      "label": "inherited hemoglobinopathy"
    }
  ]
}