{
  "id": 10528,
  "label": "glycogen storage disease Ib",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009288",
  "properties": {
    "xrefs": [
      "DOID:0081330",
      "DOID:0081331",
      "GARD:0002515",
      "MEDGEN:78644",
      "MESH:C562594",
      "NANDO:1200841",
      "NANDO:2200754",
      "NANDO:2201154",
      "NCIT:C122661",
      "OMIM:232220",
      "OMIM:232240",
      "Orphanet:79259",
      "SCTID:237965005",
      "SCTID:30102006",
      "UMLS:C0268146"
    ],
    "synonyms": [
      "G6P deficiency type IB",
      "G6P translocase deficiency",
      "G6PT deficiency",
      "GSD Ib",
      "GSD due to G6P deficiency type IB",
      "GSD due to G6PT deficiency",
      "GSD type 1 non a",
      "GSD type 1b",
      "GSD type IB",
      "GSD1B",
      "GSDIb",
      "glucose-6-phosphate transport defect",
      "glycogen storage disease Ib",
      "glycogen storage disease Ic",
      "glycogen storage disease due to G6P deficiency type IB",
      "glycogen storage disease type 1b",
      "glycogen storage disease type I non-a",
      "glycogen storage disease type IB",
      "glycogen storage disease type Ic",
      "glycogenosis due to glucose-6-phosphatase deficiency type 1B",
      "glycogenosis due to glucose-6-phosphatase transport defect type IB",
      "glycogenosis type 1b",
      "glycogenosis type IB",
      "GSD Ic",
      "GSD1C",
      "Gsd1C"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A type of glycogenosis due to G6P deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 21199,
      "label": "glycogen storage disease type 1 due to SLC37A4 mutation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4503
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002501",
          "HGNC:4061",
          "MEDGEN:419390",
          "MESH:C536831",
          "NANDO:1200841",
          "UMLS:C2931345"
        ],
        "synonyms": [
          "G6P translocase deficiency",
          "SLC37A4 glycogen storage disease I",
          "glucose-6-phosphate translocase deficiency",
          "glycogen storage disease I caused by mutation in SLC37A4"
        ],
        "definition": "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0023258"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 21199,
      "label": "glycogen storage disease type 1 due to SLC37A4 mutation"
    }
  ]
}