{
  "id": 17514,
  "label": "mucopolysaccharidosis type 6, rapidly progressing",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017171",
  "properties": {
    "xrefs": [
      "GARD:0021046",
      "MEDGEN:1842485",
      "Orphanet:276212",
      "SCTID:58263000",
      "UMLS:C5679781"
    ],
    "synonyms": [
      "MPS6, rapidly progressing",
      "MPSVI, rapidly progressing",
      "arylsulfatase B deficiency, rapidly progressing",
      "mucopolysaccharidosis type VI, rapidly progressing"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10875,
      "label": "mucopolysaccharidosis type 6",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7019,
        19111,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12800",
          "GARD:0007095",
          "MEDGEN:44514",
          "MESH:D009087",
          "MedDRA:10056892",
          "NANDO:1200108",
          "NANDO:1200109",
          "NANDO:1200110",
          "NANDO:2200551",
          "NCIT:C61264",
          "NORD:1405",
          "OMIM:253200",
          "Orphanet:583",
          "SCTID:52677002",
          "SCTID:69463008",
          "UMLS:C0026709",
          "icd11.foundation:1288379621"
        ],
        "synonyms": [
          "ARSB deficiency",
          "ASB deficiency",
          "MPS6",
          "MPSVI",
          "Maroteaux Lamy Syndrome",
          "Maroteaux-Lamy disease",
          "Maroteaux-Lamy syndrome",
          "N-acetylgalactosamine 4-sulfatase deficiency",
          "arylsulfatase B deficiency",
          "mucopolysaccharidosis type VI",
          "mucopolysaccharidosis type VI (Maroteaux-Lamy)",
          "Arsb deficiency",
          "MPS 6",
          "MPS VI",
          "Maroteaux Lamy syndrome",
          "Mucopoly-saccharidosis type VI",
          "N-acetylgalactosamine-4-sulfatase deficiency",
          "mucopolysaccharidosis VI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009661"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10875,
      "label": "mucopolysaccharidosis type 6"
    }
  ]
}