{
  "id": 18116,
  "label": "dehydrated hereditary stomatocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017910",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19735,
      "label": "hereditary stomatocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019456",
          "ICD9:282.8",
          "MEDGEN:490161",
          "NANDO:2200623",
          "Orphanet:98365",
          "SCTID:14087004",
          "UMLS:C1262483",
          "icd11.foundation:2067120097"
        ],
        "synonyms": [
          "hereditary stomatocytic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020102"
    }
  ],
  "children": [
    {
      "id": 9964,
      "label": "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        18116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111576",
          "GARD:0015126",
          "MEDGEN:1638271",
          "OMIM:194380",
          "UMLS:C4551512"
        ],
        "synonyms": [
          "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",
          "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema",
          "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema",
          "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema",
          "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema",
          "DHS",
          "DHS1",
          "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema",
          "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema",
          "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema",
          "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema",
          "Desiccytosis, hereditary",
          "dehydrated hereditary stomatocytosis",
          "pseudohyperkalemia Edinburgh",
          "pseudohyperkalemia, familial, 1, due to Red cell leak",
          "xerocytosis, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008689"
    },
    {
      "id": 15729,
      "label": "dehydrated hereditary stomatocytosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        18116
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014737"
    }
  ],
  "roots": [
    {
      "id": 19735,
      "label": "hereditary stomatocytosis"
    }
  ]
}