{
  "id": 12219,
  "label": "mucopolysaccharidosis type 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011093",
  "properties": {
    "xrefs": [
      "DOID:0050809",
      "GARD:0016675",
      "ICD9:277.6",
      "MEDGEN:226942",
      "MESH:C563209",
      "NANDO:1200115",
      "NCIT:C129073",
      "OMIM:601492",
      "Orphanet:67041",
      "SCTID:124473006",
      "UMLS:C1291490",
      "icd11.foundation:952591271"
    ],
    "synonyms": [
      "MPS9",
      "MPSIX",
      "mucopolysaccharidosis type 9",
      "mucopolysaccharidosis type IX",
      "MPS 9",
      "hyaluronidase deficiency",
      "mucopolysaccharidosis IX",
      "mucopolysaccharidosis, type 9",
      "mucopolysaccharidosis, type IX"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 7061,
      "label": "bone disorder"
    },
    {
      "id": 19111,
      "label": "mucopolysaccharidosis"
    }
  ]
}