{
  "id": 10502,
  "label": "GM1 gangliosidosis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009261",
  "properties": {
    "xrefs": [
      "DOID:0080501",
      "GARD:0010126",
      "MEDGEN:120625",
      "NANDO:1200068",
      "NANDO:2201197",
      "OMIM:230600",
      "Orphanet:79256",
      "SCTID:18756002",
      "UMLS:C0268272",
      "icd11.foundation:1132250614"
    ],
    "synonyms": [
      "juvenile GM1 gangliosidosis",
      "late-infantile GM1 gangliosidosis",
      "GM1-gangliosidosis, type 2",
      "GM1-gangliosidosis, type II",
      "gangliosidosis generalised GM1 juvenile type",
      "gangliosidosis generalised GM1 type 2",
      "gangliosidosis generalized GM1 juvenile type",
      "gangliosidosis generalized GM1 type 2",
      "gangliosidosis, generalised GM1, juvenile type",
      "gangliosidosis, generalised GM1, late-infantile type",
      "gangliosidosis, generalised GM1, type 2",
      "gangliosidosis, generalized GM1, juvenile type",
      "gangliosidosis, generalized GM1, late-infantile type",
      "gangliosidosis, generalized GM1, type 2"
    ],
    "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 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age."
  },
  "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"
    }
  ]
}