{
  "id": 10876,
  "label": "mucopolysaccharidosis type 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009662",
  "properties": {
    "xrefs": [
      "DOID:12803",
      "GARD:0007096",
      "MEDGEN:43108",
      "MESH:D016538",
      "MedDRA:10056893",
      "NANDO:1200111",
      "NANDO:2200552",
      "NCIT:C84903",
      "NORD:1722",
      "OMIM:253220",
      "Orphanet:584",
      "SCTID:43916004",
      "UMLS:C0085132",
      "icd11.foundation:1563668250"
    ],
    "synonyms": [
      "Beta-glucuronidase deficiency",
      "MPS7",
      "MPSVII",
      "Mucopolysaccharidosis Type VII",
      "Sly disease",
      "Sly syndrome",
      "beta-glucuronidase deficiency",
      "mucopolysaccharidosis type 7",
      "mucopolysaccharidosis type VII",
      "mucopolysaccharidosis, mps-VII",
      "Gus deficiency",
      "Gusb deficiency",
      "MPS 7",
      "MPS VII",
      "MPS VII - mucopolysaccharidosis VII",
      "gusb deficiency",
      "mucopolysaccharidosis, type 7",
      "mucopolysaccharidosis, type VII"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}