{
  "id": 17638,
  "label": "hereditary elliptocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017319",
  "properties": {
    "xrefs": [
      "DOID:2373",
      "GARD:0006621",
      "ICD10CM:D58.1",
      "MEDGEN:41747",
      "MESH:D004612",
      "MedDRA:10014490",
      "NANDO:2200630",
      "NCIT:C35882",
      "NORD:1935",
      "Orphanet:288",
      "SCTID:178935009",
      "UMLS:C0013902",
      "icd11.foundation:679955609"
    ],
    "synonyms": [
      "HE",
      "Hashimoto Encephalopathy",
      "congenital elliptocytosis",
      "hereditary ovalocytosis",
      "ovalocytosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 5550,
      "label": "hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:583",
          "GARD:0023610",
          "ICD10CM:D55-D59",
          "MEDGEN:1916",
          "MESH:D000743",
          "NANDO:2200636",
          "NCIT:C34376",
          "SCTID:61261009",
          "UMLS:C0002878"
        ],
        "synonyms": [
          "anaemia hemolytic",
          "anemia hemolytic",
          "anemia, hemolytic",
          "hemolytic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies."
      },
      "child_count": 11,
      "reference_id": "MONDO:0003664"
    }
  ],
  "children": [
    {
      "id": 8914,
      "label": "elliptocytosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015064",
          "MEDGEN:343643",
          "MESH:C565058",
          "OMIM:130600",
          "UMLS:C1851741"
        ],
        "synonyms": [
          "SPTA1 hereditary elliptocytosis",
          "elliptocytosis 2",
          "elliptocytosis type 2",
          "elliptocytosis-2",
          "hereditary elliptocytosis caused by mutation in SPTA1",
          "EL2",
          "elliptocytosis, Rhesus-unlinked type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007533"
    },
    {
      "id": 9476,
      "label": "southeast Asian ovalocytosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17638,
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016867",
          "ICD9:282.1",
          "MEDGEN:350649",
          "OMIM:166900",
          "Orphanet:98868",
          "SCTID:191169008",
          "UMLS:C1862322",
          "icd11.foundation:835618545"
        ],
        "synonyms": [
          "hereditary ovalocytosis",
          "Melanesian elliptocytosis",
          "Melanesian ovalocytosis",
          "SAO",
          "ovalocytosis, SA type",
          "sao",
          "stomatocytic elliptocytosis",
          "elliptocytosis 4",
          "elliptocytosis, stomatocytic hereditary",
          "he, stomatocytic",
          "ovalocytosis, Malaysian-Melanesian-Filipino type",
          "ovalocytosis, hereditary hemolytic",
          "ovalocytosis, southeast Asian"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008165"
    },
    {
      "id": 10566,
      "label": "hemolytic anemia with thermal sensitivity of red cells",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015179",
          "MEDGEN:343488",
          "MESH:C565522",
          "OMIM:235370",
          "UMLS:C1856158"
        ],
        "synonyms": [
          "hemolytic anemia with thermal sensitivity of red cells"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009334"
    },
    {
      "id": 13771,
      "label": "elliptocytosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        17638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015528",
          "MEDGEN:394841",
          "MESH:C567520",
          "OMIM:611804",
          "UMLS:C2678497"
        ],
        "synonyms": [
          "EPB41 hereditary elliptocytosis",
          "elliptocytosis 1",
          "elliptocytosis type 1",
          "elliptocytosis-1",
          "hereditary elliptocytosis caused by mutation in EPB41",
          "4.1- trait",
          "4.1-minus trait",
          "EL1",
          "Protein 4.1 of erythrocyte Membrane, defect of",
          "elliptocytosis, Rhesus-linked type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012731"
    },
    {
      "id": 23622,
      "label": "elliptocytosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17638
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016273",
          "MEDGEN:357139",
          "MESH:C566678",
          "OMIM:617948",
          "UMLS:C1866810"
        ],
        "synonyms": [
          "anemia, neonatal hemolytic, fatal or near-fatal",
          "elliptocytosis 3",
          "elliptocytosis-3",
          "EL3",
          "anemia, perinatal hemolytic, fatal or near-fatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054780"
    }
  ],
  "roots": [
    {
      "id": 5550,
      "label": "hemolytic anemia"
    }
  ]
}