{
  "id": 11819,
  "label": "mucopolysaccharidosis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010674",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4625,
        16198,
        19082,
        24093
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12798",
          "GARD:0007065",
          "ICD9:277.5",
          "MEDGEN:7733",
          "MESH:D009083",
          "MedDRA:10028093",
          "NCIT:C61259",
          "NORD:1461",
          "OMIMPS:607014",
          "Orphanet:79213",
          "SCTID:11380006",
          "UMLS:C0026703",
          "icd11.foundation:1596128696"
        ],
        "synonyms": [
          "Mucopolysaccharidoses",
          "mucopolysaccharidoses",
          "mucopolysaccharidosis",
          "MPS"
        ],
        "definition": "A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies."
      },
      "child_count": 32,
      "reference_id": "MONDO:0019249"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019203",
          "ICD9:756.9",
          "Orphanet:93448",
          "SCTID:254069004",
          "SCTID:279081001"
        ],
        "synonyms": [
          "dysostosis multiplex"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 25,
      "reference_id": "MONDO:0800088"
    }
  ],
  "children": [
    {
      "id": 16868,
      "label": "mucopolysaccharidosis type 2, severe form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11819
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016315"
    },
    {
      "id": 16869,
      "label": "mucopolysaccharidosis type 2, attenuated form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017119",
          "MEDGEN:1826165",
          "NANDO:1200099",
          "NANDO:2201171",
          "NANDO:2201172",
          "Orphanet:217093",
          "SCTID:5667009",
          "UMLS:C5679815"
        ],
        "synonyms": [
          "Hunter syndrome type B",
          "MPS2B",
          "MPSIIB",
          "iduronate 2-sulfatase deficiency type B",
          "mucopolysaccharidosis type 2, attenuated form",
          "mucopolysaccharidosis type 2B",
          "mucopolysaccharidosis type II, attenuated form",
          "mucopolysaccharidosis type IIB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016316"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}