{
  "id": 14129,
  "label": "glycogen storage disease IXc",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013091",
  "properties": {
    "xrefs": [
      "DOID:0111043",
      "GARD:0018387",
      "MEDGEN:442778",
      "MESH:C567809",
      "NANDO:1200849",
      "NANDO:2201166",
      "OMIM:613027",
      "UMLS:C2751643"
    ],
    "synonyms": [
      "GSD type 9C",
      "GSD type IXc",
      "GSD9C",
      "PHKG2 glycogen storage disease",
      "PHKG2-related glycogen storage disease type IX",
      "glycogen storage disease IXc",
      "glycogen storage disease caused by mutation in PHKG2",
      "glycogen storage disease type IXc",
      "GSD IXc"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A liver PhK deficiency caused by variants in the PHKG2 gene"
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20101,
      "label": "glycogen storage disease due to liver phosphorylase kinase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502,
        6878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017261",
          "Orphanet:264580"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood."
      },
      "child_count": 4,
      "reference_id": "MONDO:0020693"
    },
    {
      "id": 24685,
      "label": "glycogen storage disease IX",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050594",
          "GARD:0027381",
          "MEDGEN:468559",
          "MESH:C580130",
          "NCIT:C122662",
          "Orphanet:370",
          "SCTID:235908005",
          "UMLS:C0268147"
        ],
        "synonyms": [
          "GSD IX",
          "GSD type 9",
          "GSD type IX",
          "GSD9",
          "GSDIX",
          "glycogen storage disease 9",
          "glycogen storage disease IX",
          "glycogen storage disease type 9",
          "glycogen storage disease type IX",
          "glycogenosis due to phosphorylase kinase deficiency",
          "glycogenosis type 9",
          "glycogenosis type IX",
          "phosphorylase kinase deficiency"
        ],
        "definition": "A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700291"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20101,
      "label": "glycogen storage disease due to liver phosphorylase kinase deficiency"
    },
    {
      "id": 24685,
      "label": "glycogen storage disease IX"
    }
  ]
}