{
  "id": 11100,
  "label": "adult polyglucosan body disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009897",
  "properties": {
    "xrefs": [
      "GARD:0000108",
      "MEDGEN:342338",
      "MESH:C564878",
      "NANDO:2201163",
      "NORD:1591",
      "OMIM:263570",
      "Orphanet:206583",
      "SCTID:721099001",
      "UMLS:C1849722"
    ],
    "synonyms": [
      "APBD",
      "APBN",
      "polyglucosan body disease, adult",
      "polyglucosan body disease, adult form",
      "polyglucosan body neuropathy, adult form"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10531,
      "label": "glycogen storage disease due to glycogen branching enzyme deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4502
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2750",
          "GARD:0002520",
          "ICD9:277.6",
          "MEDGEN:6642",
          "MedDRA:10053249",
          "NANDO:1200827",
          "NANDO:1200850",
          "NANDO:2200540",
          "NCIT:C84737",
          "NORD:770",
          "OMIM:232500",
          "Orphanet:367",
          "SCTID:124267007",
          "UMLS:C0017923"
        ],
        "synonyms": [
          "Andersen Disease (GSD IV)",
          "Andersen disease",
          "Andersen's disease",
          "GBE1 glycogen storage disease",
          "GSD due to glycogen branching enzyme deficiency",
          "GSD type 4",
          "GSD type IV",
          "amylopectinosis",
          "glycogen storage disease caused by mutation in GBE1",
          "glycogen storage disease due to glycogen branching enzyme deficiency",
          "glycogen storage disease type 4",
          "glycogen storage disease type IV",
          "glycogenosis due to glycogen branching enzyme deficiency",
          "glycogenosis type 4",
          "glycogenosis type IV",
          "GSD 4",
          "GSD IV",
          "GSD IV, classic hepatic",
          "GSD IV, neuromuscular form, adult, with isolated myopathy",
          "GSD IV, neuromuscular form, childhood",
          "GSD IV, neuromuscular form, congenital",
          "GSD IV, neuromuscular form, fatal perinatal",
          "GSD IV, nonprogressive hepatic",
          "GSD4",
          "Gbe1 deficiency",
          "brancher deficiency",
          "cirrhosis, familial, with deposition of abnormal glycogen",
          "glycogen branching enzyme deficiency",
          "glycogen storage disease 4",
          "glycogen storage disease IV",
          "glycogenosis 4"
        ],
        "definition": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009292"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10531,
      "label": "glycogen storage disease due to glycogen branching enzyme deficiency"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}