{
  "id": 10782,
  "label": "alpha-mannosidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009561",
  "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."
  },
  "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": 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": 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": [
    {
      "id": 17965,
      "label": "alpha-mannosidosis, infantile form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10782
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017732"
    },
    {
      "id": 17966,
      "label": "alpha-mannosidosis, adult form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10782
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017408",
          "GTR:AN0103810",
          "GTR:AN0103811",
          "MEDGEN:1843432",
          "NANDO:1200128",
          "NANDO:2201189",
          "Orphanet:309288",
          "SCTID:58112007",
          "UMLS:C5679974"
        ],
        "synonyms": [
          "lysosomal alpha-D-mannosidase deficiency, adult form",
          "Alpha-mannosidosis adult-onset 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017733"
    },
    {
      "id": 20854,
      "label": "alpha-mannosidosis type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        10782
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025362",
          "MEDGEN:419756",
          "MESH:C536584",
          "NANDO:1200127",
          "NANDO:2201188",
          "SCTID:62311004",
          "UMLS:C2931251"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022424"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 19113,
      "label": "oligosaccharidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}