{
  "id": 10875,
  "label": "mucopolysaccharidosis type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009661",
  "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."
  },
  "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": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "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": 17514,
      "label": "mucopolysaccharidosis type 6, rapidly progressing",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10875
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017171"
    },
    {
      "id": 17515,
      "label": "mucopolysaccharidosis type 6, slowly progressing",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021047",
          "MEDGEN:1842694",
          "Orphanet:276223",
          "SCTID:67854007",
          "UMLS:C5679780"
        ],
        "synonyms": [
          "MPS6, slowly progressing",
          "MPSVI, slowly progressing",
          "arylsulfatase B deficiency, slowly progressing",
          "mucopolysaccharidosis type VI, slowly 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017172"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}