{
  "id": 10949,
  "label": "galactosialidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009737",
  "properties": {
    "xrefs": [
      "DOID:0080540",
      "GARD:0003953",
      "ICD9:277.6",
      "MEDGEN:82779",
      "MESH:C536411",
      "NANDO:1200119",
      "NANDO:2200557",
      "NCIT:C129928",
      "OMIM:256540",
      "Orphanet:351",
      "SCTID:35691006",
      "UMLS:C0268233",
      "icd11.foundation:1838660035"
    ],
    "synonyms": [
      "Goldberg syndrome",
      "galactosialidosis",
      "neuraminidase deficiency with beta-galactosidase deficiency",
      "GSL",
      "PPCA deficiency",
      "cathepsin A deficiency",
      "cathepsin A deficiency of",
      "lysosomal protective Protein deficiency",
      "lysosomal protective protein deficiency of",
      "neuraminidase/Beta-galactosidase expression",
      "protective Protein/Cathepsin a deficiency"
    ],
    "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": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 19113,
      "label": "oligosaccharidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}