{
  "id": 17933,
  "label": "glycogen storage disease due to acid maltase deficiency, infantile onset",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017694",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10529,
      "label": "glycogen storage disease II",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502,
        16880,
        17971
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009290"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10529,
      "label": "glycogen storage disease II"
    }
  ]
}