{
  "id": 13207,
  "label": "hereditary cryohydrocytosis with reduced stomatin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012143",
  "properties": {
    "xrefs": [
      "GARD:0017036",
      "MEDGEN:332390",
      "MESH:C563840",
      "OMIM:608885",
      "Orphanet:168577",
      "UMLS:C1837206",
      "icd11.foundation:1459095719"
    ],
    "synonyms": [
      "ChC type 2",
      "hereditary cryohydrocytosis type 2",
      "sdCHC",
      "stomatin-deficient cryohydrocytosis",
      "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis",
      "SDCHCN",
      "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly",
      "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly",
      "stomatin-deficient cryohydrocytosis with neurologic defects"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "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": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021313",
          "MEDGEN:1842168",
          "Orphanet:309001",
          "UMLS:C5681069",
          "icd11.foundation:1315315105"
        ],
        "synonyms": [
          "disorder of carbohydrate absorption and transport"
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017706"
    },
    {
      "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"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption"
    },
    {
      "id": 19735,
      "label": "hereditary stomatocytosis"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    }
  ]
}