{
  "id": 20101,
  "label": "glycogen storage disease due to liver phosphorylase kinase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020693",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082,
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050728",
          "DOID:2747",
          "GARD:0018973",
          "ICD10CM:E74.0",
          "ICD9:271.0",
          "MEDGEN:6639",
          "MESH:D006008",
          "MedDRA:10061990",
          "NANDO:1200838",
          "NCIT:C61272",
          "OMIMPS:232200",
          "Orphanet:79201",
          "SCTID:29633007",
          "UMLS:C0017919",
          "icd11.foundation:1187107383"
        ],
        "synonyms": [
          "GSD",
          "glycogen storage disease",
          "glycogen storage disorder",
          "glycogenoses",
          "glycogenosis",
          "inborn error of glycogen metabolic process",
          "inborn glycogen metabolic process disorder",
          "inborn glycogen storage disorder",
          "rare inborn error of glycogen metabolic process"
        ],
        "definition": "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues."
      },
      "child_count": 48,
      "reference_id": "MONDO:0002412"
    },
    {
      "id": 6878,
      "label": "liver disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:409",
          "EFO:0001421",
          "ICD10CM:K70-K77",
          "ICD9:573.8",
          "ICD9:573.9",
          "MEDGEN:893061",
          "MESH:D008107",
          "NCIT:C3196",
          "SCTID:235856003",
          "UMLS:C4021780",
          "icd11.foundation:1784240230"
        ],
        "synonyms": [
          "disease of liver",
          "disease or disorder of liver",
          "disorder of liver",
          "hepatic disease",
          "hepatic disorder",
          "liver and intrahepatic bile duct disorder",
          "liver disease",
          "liver disease or disorder",
          "liver disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the liver."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005154"
    }
  ],
  "children": [
    {
      "id": 11748,
      "label": "glycogen storage disease IXa1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20101,
        24685
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010598"
    },
    {
      "id": 14129,
      "label": "glycogen storage disease IXc",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20101,
        24685
      ],
      "type_id": 0,
      "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"
      },
      "child_count": 0,
      "reference_id": "MONDO:0013091"
    }
  ],
  "roots": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism"
    },
    {
      "id": 6878,
      "label": "liver disorder"
    }
  ]
}