{
  "id": 16868,
  "label": "mucopolysaccharidosis type 2, severe form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016315",
  "properties": {
    "xrefs": [
      "GARD:0017118",
      "MEDGEN:575246",
      "NANDO:1200098",
      "NANDO:2201173",
      "Orphanet:217085",
      "SCTID:73146005",
      "UMLS:C0342841"
    ],
    "synonyms": [
      "Hunter syndrome type A",
      "MPS2A",
      "MPSIIA",
      "iduronate 2-sulfatase deficiency type A",
      "mucopolysaccharidosis type 2, severe form",
      "mucopolysaccharidosis type 2A",
      "mucopolysaccharidosis type II, severe form",
      "mucopolysaccharidosis type IIA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11819,
      "label": "mucopolysaccharidosis type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19111,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12799",
          "GARD:0006675",
          "ICD10CM:E76.1",
          "MEDGEN:7734",
          "MESH:D016532",
          "MedDRA:10056889",
          "NANDO:1200097",
          "NANDO:2200548",
          "NCIT:C61260",
          "NORD:1255",
          "OMIM:309900",
          "Orphanet:580",
          "Orphanet:79388",
          "SCTID:70737009",
          "UMLS:C0026705",
          "icd11.foundation:1056274204"
        ],
        "synonyms": [
          "Hunter syndrome",
          "Hunter's syndrome",
          "I2S deficiency",
          "IDS deficiency",
          "MPS 2",
          "MPS II",
          "MPS with skin involvement",
          "MPS2",
          "MPSII",
          "Mucopolysaccharidosis Type II",
          "SIDS deficiency",
          "attenuated MPS (subtype; formerly known as mild MPS II)",
          "iduronate 2-sulfatase deficiency",
          "mucopolysaccharidosis II, X-linked recessive",
          "mucopolysaccharidosis type 2",
          "mucopolysaccharidosis type II",
          "mucopolysaccharidosis with skin involvement",
          "mucopolysaccharidosis, type 2",
          "mucopolysaccharidosis, type II",
          "severe MPS II",
          "sulfoiduronate sulfatase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010674"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11819,
      "label": "mucopolysaccharidosis type 2"
    }
  ]
}