{
  "id": 12845,
  "label": "Hurler-Scheie syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011759",
  "properties": {
    "xrefs": [
      "DOID:0111389",
      "GARD:0012560",
      "ICD10CM:E76.02",
      "MEDGEN:88566",
      "MedDRA:10056916",
      "NANDO:1200096",
      "NANDO:2201170",
      "NCIT:C122782",
      "OMIM:607015",
      "Orphanet:93476",
      "SCTID:26745009",
      "UMLS:C0086431"
    ],
    "synonyms": [
      "Hurler-Scheie syndrome",
      "MPS I H-S",
      "MPS1H/S",
      "MPSIH/S",
      "mucopolysaccharidosis type 1H/S",
      "mucopolysaccharidosis type IH/S",
      "mucopolysaccharidosis, mps-I-s",
      "Hurler–Scheie syndrome",
      "MPS1-HS",
      "Scheie disease mps type 1s",
      "Scheie's syndrome",
      "l-iduronidase deficiency, Scheie type",
      "mucopolysaccharidosis IH/S",
      "mucopolysaccharidosis type I mild form",
      "mucopolysaccharidosis type I-S",
      "mucopolysaccharidosis type Ih/S"
    ],
    "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": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3787,
      "label": "mucopolysaccharidosis type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        7061,
        19111
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12802",
          "GARD:0010335",
          "MEDGEN:44171",
          "MedDRA:10056886",
          "NANDO:2200547",
          "NANDO:2201168",
          "NCIT:C85053",
          "NORD:1462",
          "Orphanet:579",
          "SCTID:75610003",
          "UMLS:C0023786",
          "icd11.foundation:1539226250"
        ],
        "synonyms": [
          "Alpha-L-iduronidase deficiency",
          "MPS1",
          "MPSI",
          "Mucopolysaccharidosis Type I",
          "lipochondrodystrophy",
          "mucopolysaccharidosis type 1",
          "mucopolysaccharidosis type I",
          "Hurler syndrome",
          "Hurler syndrome (subtype)",
          "Hurler-Scheie syndrome (subtype)",
          "IDUA deficiency",
          "MPS 1",
          "MPS I",
          "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)",
          "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)",
          "mucopolysaccharidosis I",
          "severe MPS I (subtype, also known as Hurler syndrome)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)."
      },
      "child_count": 9,
      "reference_id": "MONDO:0001586"
    },
    {
      "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": 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": 3787,
      "label": "mucopolysaccharidosis type 1"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}