{
  "id": 3787,
  "label": "mucopolysaccharidosis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001586",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12844,
      "label": "Hurler syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3787,
        4370,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111390",
          "GARD:0012559",
          "MEDGEN:39698",
          "NANDO:1200094",
          "NANDO:2201168",
          "NCIT:C61261",
          "OMIM:607014",
          "Orphanet:93473",
          "SCTID:65327002",
          "UMLS:C0086795"
        ],
        "synonyms": [
          "Hurler disease",
          "Hurler syndrome",
          "MPS I H",
          "MPS1H",
          "MPSIH",
          "mucopolysaccharidosis type 1H",
          "mucopolysaccharidosis type IH",
          "MPS1-H",
          "mucopolysaccharidosis IH"
        ],
        "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 syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011758"
    },
    {
      "id": 12845,
      "label": "Hurler-Scheie syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3787,
        4370,
        24806
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011759"
    },
    {
      "id": 12846,
      "label": "Scheie syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3787,
        4370,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060222",
          "GARD:0012561",
          "MEDGEN:6453",
          "NANDO:1200095",
          "NANDO:2201169",
          "NCIT:C61265",
          "OMIM:607016",
          "Orphanet:93474",
          "SCTID:73123008",
          "UMLS:C0026708"
        ],
        "synonyms": [
          "MPS I S",
          "MPS1S",
          "MPSIS",
          "Scheie syndrome",
          "mucopolysaccharidosis type 1S",
          "mucopolysaccharidosis type IS",
          "MPS V",
          "MPS V, formerly",
          "MPS1-S",
          "MPS5, formerly",
          "mucopolysaccharidosis Is",
          "mucopolysaccharidosis type V, formerly"
        ],
        "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": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011760"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    }
  ]
}