{
  "id": 15729,
  "label": "dehydrated hereditary stomatocytosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014737",
  "properties": {
    "xrefs": [
      "DOID:0111577",
      "GARD:0016152",
      "MEDGEN:908701",
      "OMIM:616689",
      "UMLS:C4225242"
    ],
    "synonyms": [
      "DHS2",
      "Dehydrated hereditary stomatocytosis 2",
      "Dehydrated hereditary stomatocytosis type 2",
      "KCNN4 dehydrated hereditary stomatocytosis",
      "dehydrated hereditary stomatocytosis 2; DHS2",
      "dehydrated hereditary stomatocytosis caused by mutation in KCNN4",
      "Desiccytosis Gardos",
      "xerocytosis Gardos"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 18116,
      "label": "dehydrated hereditary stomatocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111575",
          "GARD:0005623",
          "MEDGEN:124415",
          "NANDO:2200633",
          "Orphanet:3202",
          "SCTID:715526002",
          "UMLS:C0272051",
          "icd11.foundation:799088159"
        ],
        "synonyms": [
          "hereditary xerocytosis",
          "Desiccytosis hereditary",
          "xerocytosis hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017910"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    },
    {
      "id": 18116,
      "label": "dehydrated hereditary stomatocytosis"
    }
  ]
}