{
  "id": 17955,
  "label": "Sandhoff disease, juvenile form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017722",
  "properties": {
    "xrefs": [
      "GARD:0017404",
      "MEDGEN:148320",
      "Orphanet:309162",
      "SCTID:238019007",
      "UMLS:C0751491"
    ],
    "synonyms": [
      "Hexosaminidases A and B deficiency, juvenile form",
      "juvenile GM2 gangliosidosis 0 variant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "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"
    }
  ]
}