{
  "id": 10529,
  "label": "glycogen storage disease II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009290",
  "properties": {
    "xrefs": [
      "DOID:2752",
      "GARD:0005714",
      "ICD10CM:E74.02",
      "MEDGEN:5340",
      "MedDRA:10053185",
      "NANDO:1200138",
      "NANDO:1200825",
      "NANDO:2200569",
      "NCIT:C84734",
      "NORD:1595",
      "Orphanet:365",
      "SCTID:274864009",
      "UMLS:C0017921",
      "icd11.foundation:1427054474"
    ],
    "synonyms": [
      "Alpha-1,4-glucosidase acid deficiency",
      "GAA glycogen storage disease",
      "GSD due to acid maltase deficiency",
      "GSD type 2",
      "GSD type II",
      "Pompe Disease",
      "Pompe disease",
      "acid maltase deficiency",
      "generalised glycogenosis",
      "glycogen storage disease II",
      "glycogen storage disease caused by mutation in GAA",
      "glycogen storage disease type 2",
      "glycogen storage disease type II",
      "glycogenosis due to acid maltase deficiency",
      "glycogenosis type 2",
      "glycogenosis type II",
      "Aglucosidase alfa",
      "Alpha-1,4-glucosidase deficiency",
      "Cardiomegalia Glycogenica diffusa",
      "GAA deficiency",
      "GSD 2",
      "GSD II",
      "GSD2",
      "acid maltase deficiency disease",
      "deficiency of alpha-glucosidase",
      "deficiency of lysosomal alpha-glucosidase",
      "glucosidase acid-1,4-alpha deficiency",
      "glycogen storage disease 2",
      "glycogen storage disease due to acid maltase deficiency",
      "glycogenosis, generalized, Cardiac form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal."
  },
  "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": 16880,
      "label": "familial restrictive cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6919,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020532",
          "ICD9:425.4",
          "MEDGEN:468561",
          "OMIMPS:115210",
          "Orphanet:217635",
          "SCTID:233878008",
          "UMLS:C0340429"
        ],
        "synonyms": [
          "hereditary restrictive cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0016340"
    },
    {
      "id": 17971,
      "label": "lysosomal glycogen storage disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021333",
          "MEDGEN:1842699",
          "Orphanet:309337",
          "UMLS:C5681077"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017738"
    }
  ],
  "children": [
    {
      "id": 17933,
      "label": "glycogen storage disease due to acid maltase deficiency, infantile onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10529
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021310",
          "MEDGEN:923868",
          "NANDO:1200139",
          "NANDO:2201229",
          "OMIM:232300",
          "Orphanet:308552",
          "SCTID:722302009",
          "UMLS:C3888924",
          "icd11.foundation:1496243702"
        ],
        "synonyms": [
          "GSD due to acid maltase deficiency, infantile onset",
          "GSD type 2, infantile onset",
          "GSD type II, infantile onset",
          "Pompe disease, infantile onset",
          "alpha-1,4-glucosidase acid deficiency, infantile onset",
          "glycogen storage disease type 2, infantile onset",
          "glycogen storage disease type II, infantile onset",
          "glycogenosis due to acid maltase deficiency, infantile onset",
          "glycogenosis type 2, infantile onset",
          "glycogenosis type II, infantile onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017694"
    },
    {
      "id": 18523,
      "label": "glycogen storage disease due to acid maltase deficiency, late-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10529
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021746",
          "MEDGEN:575206",
          "OMIM:621314",
          "Orphanet:420429",
          "SCTID:722343009",
          "UMLS:C0342753"
        ],
        "synonyms": [
          "Alpha-1,4-glucosidase acid deficiency, late onset",
          "Alpha-1,4-glucosidase acid deficiency, late-onset",
          "GSD due to acid maltase deficiency, late onset",
          "GSD due to acid maltase deficiency, late-onset",
          "GSD type 2, late onset",
          "GSD type 2, late-onset",
          "GSD type II, late onset",
          "GSD type II, late-onset",
          "LOPD",
          "Pompe disease, late onset",
          "Pompe disease, late-onset",
          "glycogen storage disease type 2, late onset",
          "glycogen storage disease type 2, late-onset",
          "glycogen storage disease type II, late onset",
          "glycogen storage disease type II, late-onset",
          "glycogenosis type 2, late onset",
          "glycogenosis type 2, late-onset",
          "glycogenosis type II, late onset",
          "glycogenosis type II, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018485"
    }
  ],
  "roots": [
    {
      "id": 4502,
      "label": "disorder of glycogen metabolism"
    },
    {
      "id": 16880,
      "label": "familial restrictive cardiomyopathy"
    },
    {
      "id": 17971,
      "label": "lysosomal glycogen storage disease"
    }
  ]
}