{
  "id": 11748,
  "label": "glycogen storage disease IXa1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010598",
  "properties": {
    "xrefs": [
      "DOID:0111042",
      "DOID:2751",
      "GARD:0018386",
      "MEDGEN:854172",
      "MESH:C564421",
      "MESH:D006015",
      "MedDRA:10053242",
      "NANDO:1200847",
      "NANDO:2201164",
      "OMIM:306000",
      "SCTID:41527003",
      "UMLS:C3694531"
    ],
    "synonyms": [
      "glycogen storage disease IXa",
      "PHKA2 glycogen storage disease",
      "PHKA2-related glycogen storage disease type IX",
      "glycogen storage disease IXa1",
      "glycogen storage disease VIII",
      "glycogen storage disease caused by mutation in PHKA2",
      "glycogen storage disease type 9A",
      "glycogen storage disease type IXa",
      "glycogen storage disease type VIII",
      "glycogen storage disease, type IXa1, X-linked recessive",
      "glycogen storage disease, type IXa2, X-linked recessive",
      "glycogenosis type 9A",
      "glycogenosis type IXa",
      "GSD VIII",
      "GSD VIII, formerly",
      "GSD9A1",
      "PYKL",
      "glycogen storage disease 8",
      "glycogen storage disease VIII, formerly",
      "glycogenosis type 8",
      "hepatic phosphorylase kinase deficiency",
      "liver glycogenosis, X-linked, type 1",
      "phosphorylase kinase deficiency of liver"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes."
  },
  "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"
    }
  ]
}