{
  "id": 19187,
  "label": "hereditary spherocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019350",
  "properties": {
    "xrefs": [
      "DOID:12971",
      "GARD:0006639",
      "ICD10CM:D58.0",
      "ICD9:282.0",
      "MEDGEN:52450",
      "MESH:D013103",
      "MedDRA:10019904",
      "NANDO:2200622",
      "NCIT:C97074",
      "NORD:777",
      "Orphanet:822",
      "SCTID:55995005",
      "UMLS:C0037889",
      "icd11.foundation:1305248013"
    ],
    "synonyms": [
      "Minkowski-Chauffard disease",
      "congenital spherocytic hemolytic anaemia",
      "hereditary spherocytosis",
      "spherocytic anaemia",
      "congenital spherocytosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:589",
          "GARD:0006167",
          "ICD9:282",
          "ICD9:282.9",
          "MEDGEN:1919",
          "MESH:D000745",
          "NANDO:2100183",
          "NCIT:C34379",
          "SCTID:42601008",
          "UMLS:C0002881"
        ],
        "synonyms": [
          "congenital hemolytic anemia",
          "hereditary hemolytic anemia",
          "anaemia hemolytic congenital",
          "anemia hemolytic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."
      },
      "child_count": 46,
      "reference_id": "MONDO:0003689"
    }
  ],
  "children": [
    {
      "id": 3185,
      "label": "hereditary spherocytosis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110917",
          "GARD:0016149",
          "MEDGEN:436112",
          "OMIM:616649",
          "UMLS:C2674219"
        ],
        "synonyms": [
          "HS2",
          "SPH2",
          "SPTB hereditary spherocytosis",
          "hereditary spherocytosis caused by mutation in SPTB",
          "hereditary spherocytosis type 2",
          "spherocytosis, type 2",
          "spherocytosis, hereditary, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000913"
    },
    {
      "id": 9740,
      "label": "hereditary spherocytosis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110916",
          "GARD:0024621",
          "MEDGEN:382302",
          "OMIM:182900",
          "UMLS:C2674218"
        ],
        "synonyms": [
          "ANK1 hereditary spherocytosis",
          "HS1",
          "SPH1",
          "hereditary spherocytosis caused by mutation in ANK1",
          "Sph",
          "spherocytosis, hereditary, 1",
          "spherocytosis, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008447"
    },
    {
      "id": 11244,
      "label": "hereditary spherocytosis type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110918",
          "GARD:0015236",
          "MEDGEN:394798",
          "MESH:C567489",
          "OMIM:270970",
          "UMLS:C2678338"
        ],
        "synonyms": [
          "HS3",
          "SPH3",
          "SPTA1 hereditary spherocytosis",
          "hereditary spherocytosis caused by mutation in SPTA1",
          "spherocytosis, hereditary, 3",
          "spherocytosis, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010053"
    },
    {
      "id": 14021,
      "label": "hereditary spherocytosis type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110919",
          "GARD:0015576",
          "MEDGEN:436375",
          "MESH:C567208",
          "OMIM:612653",
          "UMLS:C2675212"
        ],
        "synonyms": [
          "HS4",
          "SLC4A1 hereditary spherocytosis",
          "SPH4",
          "hereditary spherocytosis caused by mutation in SLC4A1",
          "spherocytosis, hereditary, 4",
          "spherocytosis, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012981"
    },
    {
      "id": 14025,
      "label": "hereditary spherocytosis type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19187
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110920",
          "GARD:0015578",
          "MEDGEN:436371",
          "MESH:C567202",
          "OMIM:612690",
          "UMLS:C2675192"
        ],
        "synonyms": [
          "EPB42 hereditary spherocytosis",
          "HS5",
          "SPH5",
          "hereditary spherocytosis caused by mutation in EPB42",
          "hereditary spherocytosis type 5",
          "spherocytosis, hereditary, 5",
          "spherocytosis, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012985"
    }
  ],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    }
  ]
}