{
  "id": 17965,
  "label": "alpha-mannosidosis, infantile form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017732",
  "properties": {
    "xrefs": [
      "GARD:0017407",
      "MEDGEN:575250",
      "NANDO:1200127",
      "NANDO:2201188",
      "Orphanet:309282",
      "UMLS:C0342847"
    ],
    "synonyms": [
      "lysosomal alpha-D-mannosidase deficiency, infantile form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10782,
      "label": "alpha-mannosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        19113,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3413",
          "GARD:0006968",
          "ICD9:271.8",
          "MEDGEN:7467",
          "MESH:D008363",
          "NANDO:1200126",
          "NCIT:C84548",
          "NORD:755",
          "OMIM:248500",
          "Orphanet:61",
          "SCTID:65524005",
          "UMLS:C0024748",
          "icd11.foundation:1944256516"
        ],
        "synonyms": [
          "alpha-mannosidosis",
          "lysosomal alpha-D-mannosidase deficiency",
          "mannosidosis, alpha-, types I and II",
          "Alpha mannosidase B deficiency",
          "Alpha-mannosidase B deficiency",
          "MANSA",
          "lysosomal Alpha-D-mannosidase deficiency",
          "mannosidosis, ALPHA B, lysosomal",
          "mannosidosis, alpha B lysosomal"
        ],
        "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": "Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit."
      },
      "child_count": 9,
      "reference_id": "MONDO:0009561"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10782,
      "label": "alpha-mannosidosis"
    }
  ]
}