{
  "id": 10783,
  "label": "beta-mannosidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009562",
  "properties": {
    "xrefs": [
      "DOID:3633",
      "GARD:0000869",
      "ICD9:271.8",
      "MEDGEN:888408",
      "MESH:D044905",
      "NANDO:1200129",
      "NANDO:2201190",
      "NCIT:C84596",
      "OMIM:248510",
      "Orphanet:118",
      "SCTID:238047006",
      "UMLS:C4048196",
      "icd11.foundation:1578707401"
    ],
    "synonyms": [
      "Beta-mannosidase deficiency",
      "beta-mannosidase deficiency",
      "beta-mannosidosis",
      "lysosomal beta-mannosidase deficiency",
      "mannosidosis, beta",
      "MANSB",
      "lysosomal Beta-mannosidase deficiency",
      "mannosidosis, BETA A, lysosomal"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19113,
      "label": "oligosaccharidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        17964,
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018977",
          "MEDGEN:1787409",
          "Orphanet:79215",
          "SCTID:1155842003",
          "UMLS:C5547641",
          "icd11.foundation:1805681916"
        ]
      },
      "child_count": 21,
      "reference_id": "MONDO:0019251"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "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": 19113,
      "label": "oligosaccharidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}