{
  "id": 17956,
  "label": "Sandhoff disease, adult form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017723",
  "properties": {
    "xrefs": [
      "GARD:0017405",
      "MEDGEN:148319",
      "Orphanet:309169",
      "SCTID:238020001",
      "UMLS:C0751489"
    ],
    "synonyms": [
      "Hexosaminidases A and B deficiency, adult form",
      "Sandhoff disease of adults",
      "adult GM2 gangliosidosis 0 variant",
      "adult Sandhoff disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A Sandhoff disease that occurs in an adult."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11201,
      "label": "Sandhoff disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        17953,
        19748,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3323",
          "GARD:0002521",
          "ICD10CM:E75.01",
          "MEDGEN:11313",
          "MESH:D012497",
          "NANDO:1200072",
          "NANDO:2201200",
          "NCIT:C85052",
          "NORD:1688",
          "OMIM:268800",
          "Orphanet:796",
          "SCTID:23849003",
          "UMLS:C0036161",
          "icd11.foundation:708581915"
        ],
        "synonyms": [
          "GM2 gangliosidosis 0 variant",
          "GM2 gangliosidosis, 0 variant",
          "Hexosaminidases A and B deficiency",
          "Sandhoff Jatzkewitz disease",
          "Sandhoff disease",
          "Sandhoff disease, adult form",
          "Sandhoff disease, infantile form",
          "Sandhoff disease, juvenile form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010006"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11201,
      "label": "Sandhoff disease"
    }
  ]
}