{
  "id": 10503,
  "label": "GM1 gangliosidosis type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009262",
  "properties": {
    "xrefs": [
      "DOID:0080489",
      "GARD:0002431",
      "MEDGEN:78655",
      "NANDO:1200069",
      "NANDO:2201198",
      "OMIM:230650",
      "Orphanet:79257",
      "SCTID:238027003",
      "UMLS:C0268273",
      "icd11.foundation:1331496842"
    ],
    "synonyms": [
      "adult-onset GM1 gangliosidosis",
      "Beta-galactosidase deficiency type 3",
      "GM1-gangliosidosis, type 3",
      "GM1-gangliosidosis, type III",
      "adult GM1 gangliosidosis",
      "gangliosidosis GM1 type 3",
      "gangliosidosis generalised GM1 chronic type",
      "gangliosidosis generalized GM1 chronic type",
      "gangliosidosis, generalised GM1, adult type",
      "gangliosidosis, generalised GM1, chronic type",
      "gangliosidosis, generalised GM1, type 3",
      "gangliosidosis, generalized GM1, adult type",
      "gangliosidosis, generalized GM1, chronic type",
      "gangliosidosis, generalized GM1, type 3"
    ],
    "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": "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18294,
      "label": "GM1 gangliosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        7061,
        17952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3322",
          "GARD:0010891",
          "ICD9:277.6",
          "MEDGEN:43107",
          "MESH:D016537",
          "NANDO:1200066",
          "NANDO:2200558",
          "NCIT:C84739",
          "Orphanet:354",
          "SCTID:124465002",
          "SCTID:238025006",
          "UMLS:C0085131",
          "icd11.foundation:401105928"
        ],
        "synonyms": [
          "Beta-galactosidase-1 deficiency",
          "GLB1 deficiency",
          "GM>1< gangliosidosis",
          "Landing disease",
          "Landing syndrome",
          "gangliosidosis GM1",
          "Beta galactosidase 1 deficiency",
          "Beta-galactosidosis",
          "GLB 1 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 rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018149"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18294,
      "label": "GM1 gangliosidosis"
    }
  ]
}